MedicalResearch.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.
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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.
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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.
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MedicalResearch.com Interview with:
Dr. Wen-Ya Ko, Ph.D.Postdoctoral Fellow, First author of the paper
Department of Genetics
School of Medicine
University of Pennsylvania
426 Clinical Research Building
415 Curie Boulevard
Philadelphia, PA 19104-6145
Dr. Sarah Tishkoff, Ph.D., Senior author of the paper
David and Lyn Silfen University Professor
Departments of Genetics and Biology
School of Medicine
School of Arts and Sciences
University of Pennsylvania
MedicalResearch.com: What are the main findings of the study? Answer: In humans the APOL1 gene codes for Apolipoprotein L1, a major component of the trypanolytic factor in serum. The APOL1 gene harbors two risk alleles (G1 and G2) associated with chronic kidney disease (CKD) among individuals of recent African ancestry. We studied APOL1 across genetically and geographically diverse ethnic groups in Africa. We have discovered a number of novel variants at the APOL1 functional domains that are required to lyse trypanosome parasites inside human blood vessels.
We further identified signatures of natural selection influencing the pattern of variation on chromosomes carrying some of these variants. In particular, we have identified a haplotype (a cluster of genetic variants linked along a short region of a chromosome), termed G3, that has evolved adaptively in the Fulani population who have been practicing cattle herding which has been historically documented as early as in the medieval ages (but which could have begun thousands of years earlier). Many of the novel variants discovered in this study are candidates to play a role conferring protection against trypanosomiasis and/or to play a role in susceptibility of CKD in humans.
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MedicalResearch.com Interview with: Virender Rehan, MD
Professor of Pediatrics
Chief, Division of Neonatology
Director, Neonatal Intensive Care Unit
Director, Neonatal-Perinatal Fellowship Training Program
Co-Director Perinatal Research Center
Harbor UCLA Medical Center, David Geffen School of Medicine at UCLA
Torrance, CA, 90502
MedicalResearch.com: What are the main findings of the study?Dr. Rehan: The main findings of the study include the likelihood of transmission of asthma to third generation offspring following maternal smoking during pregnancy even when child’s mother didn’t smoke. And these effects seem to be more profound in the upper airways of males compared to that in females.
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MedicalResearch.com Interview with:Daniel Belsky, PhDNIA Postdoctoral Fellow
Center for the Study of Aging and Human Development
Duke University
Polygenic risk and the development and course of asthma: an analysis of data from a four-decade longitudinal studyMedicalResearch.com: What are the main findings of the study?Dr. Belsky :We looked to the largest-ever genome-wide association study of asthma (that study by the GABRIEL Consortium included more than 26,000 individuals) to identify genetic variants that could be used to construct a genetic profile of asthma risk. We then turned to The Dunedin Multidisciplinary Health and Development Study, a unique cohort of 1,000 individuals who have been followed from birth through their fourth decade of life with extensive measurements of asthma and related traits. We computed a “genetic risk score” for each person based on the variants identified in GWAS. Then, we looked at who developed asthma, when they developed asthma, and what that asthma looked like in terms of allergic response and impaired lung function.
What we found:
(1) People with higher genetic risk scores were more likely to develop asthma and they developed asthma earlier in life.
(2) Among children who developed asthma, the ones at higher genetic risk were more likely to have persistent asthma through midlife.
(3) Genetic risk was specifically associated with allergic asthma that resulted in chronic symptoms of impaired lung function.
(4) People with higher genetic risk score developed more severe cases of asthma. As compared to people with a lower genetic risk, they were more often absent from school and work because of asthma and they were more likely to be hospitalized for asthma.
(5) The genetic risk score provided new information about asthma risk that could not be obtained from a family history.
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MedicalResearch.com Authors’ Interview: Sophie Rousseaux and Saadi Khochbin
INSERM, U823; Université Joseph Fourier, Grenoble 1; Institut Albert Bonniot, Grenoble F-38700, France.
MedicalResearch.com: What are the main findings of the study?Answer: We first discovered that all cancer cells lose the ability to maintain gene silencing and therefore activate genes that should normally remain silent. Although present in all cells, some genes are normally expressed (or “active”) only in one cell type. For example, normal lung cells do not express genes that are only active in germ cells (i. e., cells that will become spermatozoa), but lung cancerous cells activate some of these germ cells-specific genes. In this work we designed a specific approach to detect these aberrant gene expressions and found that they occur in all cancers of all origins.
We then decided to exploit this phenomenon to help the detection of cancers and predict their evolution. For this purpose, we chose to focus on lung cancer to establish “a proof of principle”.
We found that, among all the genes wrongly expressed in the tumour cells, the activation of 26 of them enabled us to identify the most aggressive lung cancers. Compared with the existing information currently available for doctors (i.e.; tumour size, its pathological subtype…), our approach brings much more precision in predicting the evolution of the tumours and the prognosis of the patients.
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MedicalResearch.com eInterview with Dr. Mathieu Lupien PhDPrincess Margaret Cancer Centre, University Health Network
Ontario Cancer Institute (OCI)
Assistant Professor
Department of Medical Biophysics
University of Toronto
MedicalResearch.com: What are the main findings of the study?Dr. Lupien: Approximately 50% of breast cancer patients fail to respond to the standard of care based on endocrine (hormonal) therapy. Our research identifies a mechanism that accounts for this resistance. Drugs against this mechanism are already tested for other diseases. Hence, our discovery should rapidly help reposition these drugs against endocrine therapy resistant breast cancer.
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MedicalResearch.com Author Interview: Jun J. Yang, Ph.D.
Assistant Member Dept. of Pharm. Sci.
St. Jude Children's Research Hospital
262 Danny Thomas Pl., MS313 Memphis, TN 38105
MedicalResearch.com: What are the main findings of the study?Dr. Yang: We performed a comprehensive survey of inherited genetic variations for their contribution to the susceptibility of acute lymphoblastic leukemia (ALL), the most common cancer in children. This is by far the largest study of its kind (in terms of the number of subjects involved), and also the first one to include multi-ethnic populations. We identified 4 genomic loci related to the predisposition to ALL, 2 of which contributed to racial differences in the incidence of ALL. This study provided unequivocal evidence for inherited susceptibility of childhood ALL and pointed to novel biology of the pathogenesis of this disease.
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ANN ARBOR, Mich. — Researchers at the University of Michigan Comprehensive Cancer Center have discovered two cancer-spurring gene rearrangements that...
Knowledge about the biological origin of diseases like schizophrenia, bipolar disorder and other psychiatric conditions is critical to improving diagnosis...
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MedicalResearch.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.
(more…)
