Author Interviews, Endocrinology, Genetic Research, Metabolic Syndrome, Weight Research, Yale / 14.05.2014

MedicalResearch Interview with: Arya Mani, M.D. Department of Internal Medicine and Genetics Yale Cardiovascular Research Center Yale, New Haven CT Arya Mani, M.D. Department of Internal Medicine and Genetics Yale Cardiovascular Research Center Yale, New Haven CT MedicalResearch: What are the main findings of the study? Dr. Mani: Our group has identified a gene that when mutated it causes a form of truncal (central) obesity that is associated with a cluster of coronary artery disease risk factors, including high blood pressure, insulin resistance and possibly elevated blood lipids. These associated risk factors are collectively known as the metabolic syndrome, which may lead to development of diseases such as diabetes and coronary artery disease, both of which were very prevalent in the populations we studied. All identified mutations by our group have been so far gain of function mutations, which means they increased the activity of the gene in pathways related to adipogenesis and gluconeogenesis.
Author Interviews, Breast Cancer, Genetic Research / 29.04.2014

Dr. Yvonne Bombard, PhD Scientist in the Keenan Research Centre of the Li Ka Shing Knowledge Institute of St. Michael's Hospital Assistant Professor, Institute of Health Policy, Management and Evaluation, Faculty of Medicine, University of TorontoMedicalResearch.com Interview with: Dr. Yvonne Bombard, PhD Scientist in the Keenan Research Centre of the Li Ka Shing Knowledge Institute of St. Michael's Hospital Assistant Professor, Institute of Health Policy, Management and Evaluation, Faculty of Medicine, University of Toronto MedicalResearch.com: What are the main findings of the study? Dr. Bombard: The main finding of the study is that gene expression profiling tests play a critical role when women with early-stage breast cancer decide whether to have chemotherapy, but many of them do not fully understand what some of the test results mean. For many the gene expression profiling test was the main factor in their treatment decision. The women we interviewed understood the test would indicate whether chemotherapy would be beneficial to them. But many thought the test reflected their unique circumstances and did not understand that their test result was based on larger population statistics. Patients often viewed their gene expression profiling results as providing information that was more scientifically valid, uniquely personalized and emotionally significant than any other information they had received. For many, the test was a transformational element that empowered them, allowed them to feel confident in their decisions and may even have rescued them from unnecessary chemotherapy. Patients described emotionally and socially complex reasons why they valued gene expression profiling testing in making their treatment decisions. Patients valued the test because it provided them with certainty amidst confusion, with options and a sense of empowerment, and with personalized, authoritative information.
Author Interviews, Dengue, Ebola, Genetic Research, Infections, NEJM, NIH / 24.04.2014

Sergio D. Rosenzweig, MD, PhD Director, Primary Immunodeficiency Clinic (PID-C) LHD, NIAID, NIH Head of the Infectious Diseases Susceptibility Unit at the Laboratory of Host Defenses, National Institutes of Allergy and Infectious Diseases National Institutes of Health Bethesda, MD, 20892MedicalResearch.com Interview with: Sergio D. Rosenzweig, MD, PhD Director, Primary Immunodeficiency Clinic (PID-C) Head of the Infectious Diseases Susceptibility Unit at the Laboratory of Host Defenses, National Institutes of Allergy and Infectious Diseases National Institutes of Health Bethesda, MD, 20892 MedicalResearch.com: What are the main findings of the study? Dr. Rosenzweig: We diagnosed a disease called CDG-IIb in two siblings with severe development issues and very low levels of immunoglobulins, which include infection-fighting antibodies. These children were referred to the NIAID Primary Immunodeficiency Clinic through the NIH Undiagnosed Diseases Program. CDG-IIb is an extremely rare congenital disorder of glycosylation (CDG), with only one other case reported. The genetic defect of the disease disrupts glycosylation, the process for attaching and trimming sugars from proteins. Almost 50% of our proteins have sugars attached, and these are called glycoproteins. They include immunoglobulins and also some viral glycoproteins that are made when cells are infected by a virus. The spread of some viruses, including HIV and influenza, depend on viral glycoproteins in order to infect additional cells and form viral protective shields. We found that this type of virus was less able to replicate, infect other cells, or create adequate protective shields in CDG-IIb patient cells because of the glycosylation defect. In comparison, adenovirus, poliovirus, and vaccinia virus, which either do not rely on glycosylation or do not form protective glycoprotein shields, replicated normally when added to both CDG-IIb and healthy cells.
Author Interviews, Cancer Research, Genetic Research, Journal Clinical Oncology / 20.04.2014

MedicalResearch.com Interview with: Allison W. Kurian, M.D., M.Sc. Assistant Professor of Medicine and of Health Research and Policy Divisions of Oncology and Epidemiology Allison W. Kurian, M.D., M.Sc. Assistant Professor of Medicine and of Health Research and Policy Divisions of Oncology and Epidemiology and James M. Ford, MD Associate Professor of Medicine Pediatrics and Genetics, Division of Oncology, Stanford University School of MedicineJames M. Ford, MD Associate Professor of Medicine Pediatrics and Genetics, Division of Oncology, Stanford University School of Medicine MedicalResearch.com: What are the main findings of the study? Answer: We found that 11% of women who met standard clinical criteria for BRCA1 and BRCA2 (BRCA1/2) mutation testing, yet had tested negative, actually carried an actionable mutation in another cancer-related gene.  We found that patients were highly motivated to learn about their genetic test results and new recommendations for cancer risk reduction.  Over a short follow-up period, colonoscopy screening resulted in early detection of a tubular adenoma in a patient found to have a high-risk MLH1 mutation, and thus the multiple-gene testing in our study has likely prevented at least one cancer to date.  We conclude that multiple-gene sequencing can benefit appropriately selected patients.
Author Interviews, Genetic Research, Nature, Social Issues / 14.04.2014

MedicalResearch.com Interview with: Prof Dr Isabelle Mansuy Lab of Neuroepigenetics University/ETH Zürich Brain Research Institute Zürich SwitzerlandProf Dr Isabelle Mansuy Lab of Neuroepigenetics University/ETH Zürich Brain Research Institute Zürich Switzerland MedicalResearch.com: What are the main findings of the study? Prof. Mansuy: The mains findings are that the transmission of the effects of traumatic stress in early life involves small non-coding RNAs in sperm. The study shows that some microRNAs are in excess in the sperm of adult males subjected to trauma during early postnatal life, but are also altered in the brain and in blood, and that these alterations are associated with behavioral and metabolic symptoms including depressive behaviors, reduced risk assessment and altered glucose/insulin metabolism. Injecting sperm RNA in fertilized oocytes reproduces these symptoms and confirm that RNA are the responsible factors.
Alzheimer's - Dementia, Author Interviews, Genetic Research, NIH / 10.04.2014

Prof. Dr. med. Piotr Lewczuk Head,Lab for Clinical Neurochemistry and Neurochemical Dementia Diagnostics, Universitätsklinikum Erlangen, Department of Psychiatry and Psychotherapy, 91054 Erlangen, GermanyMedicalResearch.com Interview with: Prof. Dr. med. Piotr Lewczuk Head,Lab for Clinical Neurochemistry and Neurochemical Dementia Diagnostics, Universitätsklinikum Erlangen, Department of Psychiatry and Psychotherapy, 91054 Erlangen, Germany MedicalResearch.com: What are the main findings of the study? Prof. Dr. med. Piotr Lewczuk: In our study, we investigated the concentrations of four isoforms of amyloid beta peptides in the blood of healthy young volunteers without memory complains. The participants were stratified into three groups according to their apolipoprotein E (APOE) genotype, which is the mostly investigated and generally accepted genetic risk factor for sporadic Alzheimer’s Disease (AD). It is known that the alterations of the amyloid beta metabolism are the earliest changes in the course of AD, occurring many years (or even decades) before the onset of the clinical symptoms, but it is actually not known how early these alterations start. Correspondingly, we wanted to investigate if healthy persons with genetic risk factor show changes in their amyloid beta metabolism already 30-40 years before the age when AD is usually diagnosed. We did not find any differences between the groups with and without APOE-driven risk, which might be carefully interpreted as no signs of Alzheimer’s Disease pathology in persons at risk at such an early life stage. Taken together, we think that the Alzheimer’s Disease pathology starts some 10-20 years before the beginning of the clinical symptoms, but not earlier.
Autism, Genetic Research, NEJM, UCSD / 26.03.2014

MedicalResearch.com Interview with: Dr. Erik Courchesne PhD Professor, Department of Neurosciences UC San Diego School of Medicine MedicalResearch.com: What are the main findings of the study? Dr. Courchesne: “Building a baby’s brain during pregnancy involves creating a cortex that contains six layers,” Courchesne said. “We discovered focal patches of disrupted development of these cortical layers in the majority of children with autism.” The authors created the first three-dimensional model visualizing brain locations where patches of cortex had failed to develop the normal cell-layering pattern. The study found that in the brains of children with autism key genetic markers were absent in brain cells in multiple layers. “This defect,” Courchesne said, “indicates that the crucial early developmental step of creating six distinct layers with specific types of brain cells – something that begins in prenatal life – had been disrupted.”  The study gives clear and direct new evidence that autism begins during pregnancy.
Author Interviews, Dental Research, Genetic Research / 23.03.2014

Dr. Panos N. Papapanou: Professor of Dental Medicine; Chairman, Section of Oral and Diagnostic Sciences Director, Division of Periodontics Section of Oral and Diagnostic Sciences, College of Dental Medicine, Columbia University, New York, NY, USAMedicalResearch.com Interview with: Dr. Panos N. Papapanou: Professor of Dental Medicine; Chairman, Section of Oral and Diagnostic Sciences Director, Division of Periodontics Section of Oral and Diagnostic Sciences, College of Dental Medicine, Columbia University, New York, NY MedicalResearch.com: What are the main findings of the study? Dr. Papapanou: Gene expression signatures in gum tissues obtained from patients with periodontitis identified two fairly robust clusters, suggesting potential differences in pathobiologic processes between the two groups. In addition, the two clusters displayed differences in important features of the disease (e.g., the extent and severity of periodontitis, and the level of colonization by periodontal bacteria). These findings indicate that gene expression patterns may form the basis for a novel, pathobiology-based classification of periodontitis.
Author Interviews, Case Western, Chemotherapy, Genetic Research, Lung Cancer, UT Southwestern / 22.03.2014

Dr. Azi Gazdar, MD UT Southwestern Medical Center W. Ray Wallace Distinguished Chair in Molecular Oncology Research Hamon Center for Therapeutic Oncology, PathologyMedicalResearch.com Interview with: Dr. Azi  Gazdar, MD UT Southwestern Medical Center W. Ray Wallace Distinguished Chair in Molecular Oncology Research Hamon Center for Therapeutic Oncology, Pathology MedicalResearch.com: What are the main findings of the study? Dr. Gazdar: We describe the characteristics of lung cancers arising in subjects who inherited a germline mutation that predisposes to lung cancer.  The mutation is rare in the general populations, and is inherited equally by both sexes.  However it is a potent predisposing gene, and one third of the never smoking carriers will develop lung cancer.  Thus, about 1% of patients who develop lung cancer carry the germline mutation.  This figure may rise as awareness of the condition and its link to lung cancer is raised among doctors diagnosing lung cancer. However, lung cancers mainly develop in women who are lifetime never smokers.  Lung cancer development is much less common among smokers and men, although accurate figures are not yet available. So the risk among carriers is somewhat similar to the BRCA genes predisposing to breast cancer, where a female carrier has about a 50% lifetime chance of developing breast cancer. The specific germline mutation (known as T790M) occurs in a gene known as epidermal growth factor receptor (EGFR) gene.  Sporadic mutations in this gene usually predict for effective responses to a class of drugs known as tyrosine kinase inhibitors (TKIs), which are widely used in the treatment of lung cancer.  However, the T790M mutation, when it occurs in sporadic tumors not associated with germline inheritance are resistant to TKI therapy.  Thus the prediction is that lung cancers arising in carriers with the germline mutation would also be resistant to TKI therapy.
Author Interviews, Genetic Research, Lipids, University of Michigan / 19.03.2014

dr_cristen_j_willerMedicalResearch.com Interview with: Cristen J. Willer, PhD Assistant Professor Division of Cardiovascular Medicine, Dept of Internal Medicine Dept of Human GeneticsDept of Computational Medicine and Bioinformatics University of Michigan Ann Arbor, MI 48109-5618 MedicalResearch.com: What are the main findings of the study? Dr. Willer: We wanted to find new genes related to heart disease, so we examined the DNA of approximately 10,000 Norwegian individuals and found 10 genes that are important regulators of blood cholesterol levels. Nine of these were well known to be related to lipids, but one gene was new.  It turned out to be in a region we'd previously noticed to be related to cholesterol, but it was a big region and we hadn't been able to pinpoint the gene yet.  Using this new approach, focusing on DNA differences that result in slightly different proteins in people, we zeroed in on the gene.  We then altered this gene in mice, and saw the predicted changes in cholesterol levels in mice.
Author Interviews, BMJ, Brigham & Women's - Harvard, Genetic Research, Medical Research Centers, Nutrition, Weight Research / 19.03.2014

Prof. Lu Qi, Assistant Professor, Department of Nutrition Harvard School of Public Health and Channing Division of Network Medicine Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MAMedicalResearch.com Interview with: Prof. Lu Qi, Assistant Professor, Department of Nutrition Harvard School of Public Health and Channing Division of Network Medicine Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA MedicalResearch.com: What are the main findings of the study? Dr. Lu Qi: In this study, we for the first time provide reproducible evidence from three large cohort studies to show that the association between regular consumption of fried foods and higher BMI was particularly pronounced among people with a greater genetic predisposition to obesity. On the other hand, the adverse genetic effects on BMI were also amplified by consuming more fried foods, the effects among those who ate fried foods more than four times a week was about twice as large compared with those who ate them less than once a week.
Author Interviews, Genetic Research, Mayo Clinic, Mental Health Research, Nature / 12.03.2014

MedicalResearch.com Interview with: Prof. Dr. Sven Cichon, PhD Director, Division of Medical Genetics University Hospital Basel Human Genomics Research Group Department of Biomedicine University of Basel Basel, Switzerland MedicalResearch.com: What were the main findings of the study? Answer: We have identified two new gene regions that represent pieces of the jigsaw puzzle of genetic and non-genetic factors that lead to the development of bipolar disorder. One is the gene ADCY2 (Adenylate Cyclase 2) which is involved in signal transmission within nerve cells. The other region comprises two genes, both presumably playing a role in neurodevelopmental processes (MIR2113 and POU3F2). Importantly, these results come out of the largest of these kinds of studies so far, involving altogether more than 24,000 people.
Author Interviews, Blood Pressure - Hypertension, Diabetes, Genetic Research, University of Pennsylvania / 05.03.2014

MedicalResearch.com Interview with: Brendan Keating D.Phil Assistant Professor, Dept of Pediatrics and Surgery, University of Pennsylvania Lead Clinical Data Analyst, Center for Applied Genomics Children's Hospital of Philadelphia,Brendan Keating D.Phil Assistant Professor, Dept of Pediatrics and Surgery, University of Pennsylvania Lead Clinical Data Analyst, Center for Applied Genomics Children's Hospital of Philadelphia Michael V. Holmes, MD, PhD, MSc, BSc, MRCP Transplant Surgery Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USAMichael V. Holmes, MD, PhD, MSc, BSc, MRCP Transplant Surgery Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA MedicalResearch.com: What are the main findings of the study? Answer: We found that individuals with a genetically-elevated BMI had higher blood pressure, inflammatory markers, metabolic markers and a higher risk of type 2 diabetes, although there was little correlation with coronary heart disease in this study population of over 34,500 European-descent individuals of whom over 6,000 had coronary heart disease.
Author Interviews, Genetic Research, JAMA, Weight Research / 18.02.2014

Dr Clare Llewellyn PhD Cpsychol Lecturer in Behavioural Obesity Research Health Behaviour Research Centre Department of Epidemiology and Public Health University College London, LondonMedicalResearch.com Interview with: Dr Clare Llewellyn PhD Cpsychol Lecturer in Behavioural Obesity Research Health Behaviour Research Centre Department of Epidemiology and Public Health University College London, London  MedicalResearch.com: What are the main findings of the study? Dr. Llewellyn:This study indicated that appetite – and, in particular, satiety sensitivity (how quickly you feel full during eating, or how long you remain full after eating) – could be one of the mechanisms through which ‘obesity genes’ influence body weight. We know that body weight has a strong genetic basis, but the mechanisms through which ‘obesity genes’ influence weight are largely unknown. We showed that children with a higher genetic predisposition to obesity (estimated from a score comprising 28 known obesity-related genes) not only had more body fat (a larger BMI and waist circumference), but importantly they were also less sensitive to satiety.
Alcohol, Author Interviews, Genetic Research, University of Pennsylvania / 14.02.2014

Henry R. Kranzler, MD Professor, Department of Psychiatry Director of the Center for Studies of Addiction. University of Pennsylvania Perelman School of Medicine, PhiladelphiaMedicalResearch.com Interview with: Henry R. Kranzler, MD Professor, Department of Psychiatry Director of the Center for Studies of Addiction. University of Pennsylvania Perelman School of Medicine, Philadelphia MedicalResearch.com: What are the main findings of the study? Dr. Kranzler: The study had two main findings:
  • First, topiramate, at a maximal dosage of 200 mg/day, which is lower than the 300 mg/day used in prior treatment trials, substantially reduced the frequency of heavy drinking and increased the frequency of abstinent days more than placebo. The lower dosage was well tolerated.
  • Second, a variant in a gene that encodes a receptor subunit that binds topiramate moderated the response to topiramate. That is, C-allele homozygotes in the single nucleotide polymorphism rs2832407 in GRIK1, the gene encoding the GluK1 subunit of the kainate receptor, were the subgroup that accounted for the effects of topiramate on heavy drinking. This has important implications for the personalized treatment of alcohol use disorder, in that 40% of people of European ancestry have this genotype and, if confirmed, these findings would make it possible to screen people genetically to select an effective treatment.
Author Interviews, Genetic Research, Psychological Science / 21.01.2014

Eric Lacourse, Ph.D. Professeur agrégé Département de sociologie Université de Montréal Groupe de Recherche sur l'Inadaptation Psychosociale chez l'enfant (GRIP) Centre de Recherche de l'Hôpîtal Ste-JustineMedicalResearch.com Interview with: Eric Lacourse, Ph.D.  Professeur agrégé Département de sociologie Université de Montréal Groupe de Recherche sur l'Inadaptation Psychosociale chez l'enfant  Centre de Recherche de l'Hôpîtal Ste-Justine MedicalResearch.com: What are the main findings of the study? Dr. Lacourse: The gene-environment analyses revealed that early genetic factors were pervasive in accounting for developmental trends, explaining most of the stability and change in physical aggression, ” Lacourse said. “However, it should be emphasized that these genetic associations do not imply that the early trajectories of physical aggression are set and unchangeable. Genetic factors can always interact with other factors from the environment in the causal chain explaining any behaviour.”
Author Interviews, Genetic Research, Nature, Thyroid / 24.11.2013

Yuri E. Nikiforov, M.D., Ph.D. Professor of Pathology Vice Chair for Molecular Pathology Director, Division of Molecular & Genomic Pathology Department of Pathology University of Pittsburgh Pittsburgh, PA 15213MedicalResearch.com Interview Yuri E. Nikiforov, M.D., Ph.D. Professor of Pathology, Vice Chair for Molecular Pathology Director, Division of Molecular & Genomic Pathology Department of Pathology, University of Pittsburgh Pittsburgh, PA MedicalResearch.com: What are the main findings of the study? Dr. Nikiforov: This is examined temporal changes in mutational profiles and standardized histopathologic features of thyroid cancer in the U.S. over the last four decades. It showed a significant change in molecular profiles of thyroid cancer during the past 40 years as it determined two major trends in changing the mutational make-up of thyroid cancer: a rapid increase in the prevalence of RAS mutations, particularly for the last 10 years, and continuous decrease in frequency of RET/PTC rearrangement. The rising incidence of RAS mutations points to new and more recent etiologic factors, probably of a chemical or dietary nature. The decreasing incidence of RET/PTC rearrangements, a known marker of high-dose environmental and medical radiation, suggest that the impact of ionizing radiation, at least as related to high-dose environmental exposures and historical patterns of radiation treatment for benign conditions, is diminishing.
Author Interviews, Autism, Genetic Research / 30.10.2013

Linda Brzustowicz, M.D. Professor and Chair Department of Genetics Rutgers University Piscataway, NJ 08854MedicalResearch.com Interview with: Linda Brzustowicz, M.D. Professor and Chair Department of Genetics Rutgers University,Piscataway, NJ 08854 MedicalResearch.com: What are the main findings of the study? Dr. Brzustowicz: The objective of this study was to search for locations in the human genome that impact language ability in individuals with autism as well as in their family members without autism.  To do this, we recruited families with an individual with autism and at least one other family member without autism but with a language learning impairment.  We identified two locations in the human genome that are linked to language ability in these families.  Importantly, these locations do not appear to be specific to language impairment in the individuals with autism, but are related to language ability in other family members as well.  This suggests that while individuals with autism may have new, or de novo, genetic variations that are important for risk of illness, they may also carry inherited genetic variation that influence the expression of their illness.  The effects of these inherited variants can also be seen in the language performance of family members without autism.
Author Interviews, Cognitive Issues, Genetic Research, Memory / 11.10.2013

Dr. Rebecca Todd Assistant Professor University of British Columbia Department of Psychology Centre for Interactive Research on Sustainability 4342A-2260 West Mall Vancouver, BC V6T 1Z4MedicalResearch.com Interview with: Dr. Rebecca Todd Assistant Professor University of British Columbia Department of Psychology Centre for Interactive Research on Sustainability 4342A-2260 West Mall Vancouver, BC V6T 1Z4 MedicalResearch.com: What are the main findings of the study? Answer: What we found, in essence, is that some individuals are genetically predisposed to see the world more darkly than others. We find that a common gene variant is linked to perceiving emotional events --especially negative ones --¬ more vividly than others. This gene variant has been previously linked (by other researchers) to emotional memory and the likelihood of experiencing intrusive, or “flashback” memories following traumatic experience. Our findings suggest that in healthy young adults this enhanced emotional memory may be because individuals are more likely to perceive what’s emotionally relevant in the first place. We've all heard of rose colored glasses, but this is more like gene-colored glasses, tinted a bit darkly.
Author Interviews, Genetic Research / 10.10.2013

Erica D. Watson, PhD Lecturer in Reproductive Biology Centre for Trophoblast Research Dept Physiology, Development and Neuroscience University of Cambridge Physiology Building, Downing Site Cambridge, CB2 3EG, United Kingdom MedicalResearch.com Interview with: Erica D. Watson, PhD Lecturer in Reproductive Biology Centre for Trophoblast Research Dept Physiology, Development and Neuroscience University of Cambridge, United Kingdom MedicalResearch.com:  What are the main findings of the study? Dr. Watson: It has been known for decades that maternal folate deficiency increases the risk for a diverse range of health problems in her children, such as spina bifida, heart defects and growth restriction. Despite this, the molecular mechanism of folate during development was not well understood. Our study is important because it shows that the inability to break down folate due to a mutation in the gene Mtrr can affect the health not only in the immediate offspring but also of the next generation. We used mice for the study as they metabolize folate similarly to humans and because folic acid deficiency or mutations in the genes required to break down folate in humans result in similar developmental abnormalities and diseases in mice. This enabled us to explore how the molecular mechanism of folate deficiency impacted development, thereby causing health problems.
Author Interviews, Genetic Research, Hip Fractures, Weight Research / 25.09.2013

Professor Tuan V. Nguyen Osteoporosis and Bone Biology Program Garvan Institute of Medical Research 384 Victoria Street, Darlinghurst NSW 2010 AustraliaMedicalResearch.com Interview with: Professor Tuan V. Nguyen Osteoporosis and Bone Biology Program Garvan Institute of Medical Research 384 Victoria Street, Darlinghurst NSW 2010 Australia MedicalResearch.com: What are the main findings of the study? Dr. Nguyen: We analyzed polymorphisms of the FTO (fat mass and obesity) gene in 934 elderly women of Caucasian background, and found that carriers of minor genotype (AA) of the SNP rs1121980 had a two-fold increase in the risk of hip fracture compared with carriers of major genotype (GG). Approximately 20% of women are carriers of the AA genotype. We estimate that about 17% of hip fracture cases could be attributed to the variation within the gene.
Author Interviews, Genetic Research, Metabolic Syndrome, Nature, Surgical Research, Weight Research / 13.09.2013

MedicalResearch.com Interview with: Koji Ikeda, MD, PhD Assistant Professor Department of Cardiology Graduate School of Medical Science, Kyoto Prefectural University of Medicine Kyoto, Japan MedicalResearch.com: What are the main findings of the study?  Dr. Ikeda: The main findings of this study is the identification of a novel mechanism that regulates glucose homeostasis and energy metabolism, provided by Ecscr. Consequently, Ecscr modifies the insulin sensitivity and the progression of obesity, indicating that Ecscr is a new target for the treatment of metabolic syndrome.
Author Interviews, Cognitive Issues, Diabetes, Genetic Research / 11.09.2013

MedicalResearch.com Interview with: Ramit Ravona-Springer M.D., Psychiatrist Director of Memory Clinic, Sheba Medical Center, Tel Hashomer, Israel MedicalResearch.com: What are the main findings of the study? Answer: In a cohort of elderly, cognitively normal type 2 diabetes (T2D) subjects, those with Haptoglobin (Hp) 1-1 genotype present lower cognitive performance compared to Hp 2 carriers (Hp 1-2 and Hp 2-2). The contribution of cardiovascular risk factors to cognition was significantly higher in subjects with Hp1-1 genotype compared to Hp 2 carriers.
Alzheimer's - Dementia, Author Interviews, Genetic Research, JAMA / 30.08.2013

Ekaterina Rogaeva, PhD Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, CanadaDepartment of Medicine, University of Toronto, Toronto, Ontario, CanadaCambridge Institute for Medical Research and Department of Clinical Neurosciences, University of Cambridge, Cambridge, EnglandMedicalResearch.com Interview with: Ekaterina Rogaeva, PhD Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, CanadaDepartment of Medicine, University of Toronto, Toronto, Ontario, CanadaCambridge Institute for Medical Research and Department of Clinical Neurosciences, University of Cambridge, Cambridge, England MedicalResearch.com: What are the main findings of the study? Answer: We tested the hypothesis that late-onset Alzheimer disease (AD) might be in part explained by the homozygosity of unknown loci. In a genome-wide study of a Caribbean Hispanic population with noticeable inbreeding and high risk of AD we assessed the presence of long runs of homozygosity (ROHs) – regions where the alleles inherited from both parents are identical. Our results suggest the existence of recessive AD loci, since the mean length of the ROH per person was significantly longer in AD cases versus controls, and this association was stronger in familial AD.
Author Interviews, Diabetes, Genetic Research, Heart Disease, JAMA / 28.08.2013

Lu Qi, MD, PhD, FAHA Assistant Professor of Medicine Harvard Medical School Assistant Professor of Nutrition Harvard School of Public HealthMedicalResearch.com Interview with: Lu Qi, MD, PhD, FAHA Assistant Professor of Medicine Harvard Medical School Assistant Professor of Nutrition Harvard School of Public Health

MedicalResearch.com: What are the main findings of the study? Answer: The main findings include, we for the first time identified a genetic variant predisposing to high risk of coronary heart disease in patients with type 2 diabetes, using genome-wide association (GWA) approach. More interesting, we demonstrated that the variant may affect expression of a gene involved in metabolism of amino acid glutamic acid, which has been related to insulin secretion and heart health in previous studies.
Author Interviews, Dermatology, Genetic Research, Nature / 23.08.2013

MedicalResearch.com Interview with: Joyce Y Tung Ph.D.MedicalResearch.com Interview with: Joyce Y Tung Ph.D. Research Team 23andMe Inc. Mountain View, California, USA MedicalResearch.com: What are the main findings of the study? Dr. Tung: 23andMe researchers identified four genetic markers that were significantly associated with the development of stretch marks, including one near the elastin (ELN) gene. This finding may further explain why some individuals are more susceptible to the skin condition. Given that loose skin is a symptom of syndromes caused by deletion or loss-of-function mutations in ELN, these results also support the hypothesis that variations in the elastic fiber component of the skin extracellular matrix contribute to the development of stretch marks.
Author Interviews, Breast Cancer, Genetic Research / 20.08.2013

Steven A. Narod, MD Women’s College Research Institute 790 Bay St, 7th Floor Toronto, ON, M5G 1N8 CanadaMedicalResearch.com Author Interview: Steven A. Narod, MD Women’s College Research Institute 790 Bay St, 7th Floor Toronto, ON, M5G 1N8 Canada MedicalResearch.com: What are the main findings of the study? Answer: We found that the survival of women with breast cancer and a brca1 mutation was similar to that of women with breast cancer and no mutation.
Alzheimer's - Dementia, Author Interviews, Genetic Research, Mental Health Research / 16.08.2013

[caption id="attachment_1458" align="alignleft" width="200"]Dr. Ramon Trullas Research Professor CSIC Institute of Biomedical Research of Barcelona Dr. Ramon Trullas
(left rear)[/caption] MedicalResearch.com Interview with: Dr. Ramon Trullas Research Professor CSIC Institute of Biomedical Research of Barcelona MedicalResearch.com: What are the main findings of the study? Answer: The findings reported in this manuscript that we consider can be underscored are: 1) Asymptomatic subjects at risk of developing sporadic Alzheimer’s disease (AD), as well as symptomatic patients diagnosed with probable sporadic AD show a low concentration of circulating cell free mitochondrial DNA (mtDNA) in cerebrospinal fluid (CSF). 2) Pre-symptomatic subjects carrying pathogenic PSEN1 gene mutations which cause early onset familial AD, also exhibit low mtDNA content in CSF. 3) Reduced mtDNA content in CSF occurs in preclinical PSEN1 mutation carriers at least one decade before patients are expected to manifest clinical signs of dementia and well before any alteration in currently known AD biomarkers. 4)  Low mtDNA content in CSF distinguishes patients diagnosed with AD from either controls or patients with fronto-temporal lobar degeneration. These findings indicate that the amount of circulating cell-free mtDNA content in CSF may be a novel biomarker for the early detection of AD in the preclinical stage of AD. Moreover, the observation that low mtDNA content in the CSF is associated with both sporadic and familial forms of AD suggests that, independently of the etiology, regulation of mtDNA content is a converging factor in the pathophysiology of AD.
Alzheimer's - Dementia, Author Interviews, Genetic Research, Nature / 16.08.2013

MedicalResearch.com Interview with: Steve Estus PhD Dept. of Physiology University of Kentucky Office: Room 332 Sanders-Brown Building 800 S. Limestone Street Lexington, KY 40536-0230 MedicalResearch.com: What are the main findings of the study? Answer: We report evidence for the function of a Alzheimer's genetic  risk factor.  This protective allele of the polymorphism decreases the splicing efficiency of exon 2 in CD33, a receptor protein that regulates microglial activation.  Loss of exon 2 appears to produce a dormant CD33 protein, resulting in increased microglial phagocytosis activity.  Overall, these findings confirm and extend recent papers in Neuron and Nature Neuroscience  (discussed further in our report) that described decreased CD33 activity with the protective SNP allele.