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. (more…)
Alzheimer's - Dementia, Author Interviews, Genetic Research, Mental Health Research / 16.08.2013

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. (more…)
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. (more…)
Alzheimer's - Dementia, Author Interviews, JAMA, Mental Health Research, UCSF / 26.04.2013

MedicalResearch.com eInterview with Dr. David Perry UCSF School of Medicine Clinical Fellow in Neurology 675 Nelson Rising Lane San Francisco CA 94158 MedicalResearch.com: What are the main findings of the study? Dr. Perry: We described two patients with clinical syndromes and brain imaging patterns that are consistent with Alzheimer’s disease. Both were found to have mutations in GRN, which are typically associated with inherited frontotemporal dementia. They both showed evidence of underlying Alzheimer’s pathology, in one case through autopsy confirmation (demonstrating Alzheimer’s disease in addition to TDP-43 pathology), and in the other case from a positive amyloid PET scan. (more…)
Alzheimer's - Dementia, Depression, Mental Health Research / 22.03.2013

Laura B. Zahodne, PhD Postdoctoral fellow in the cognitive neuroscience division in the Department of Neurology and the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain Columbia University Medical Center.MedicalResearch.com Interview with: Laura B. Zahodne, PhD Postdoctoral fellow in the cognitive neuroscience division in the Department of Neurology and the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain Columbia University Medical Center. MedicalResearch.com: What are the main findings of the study? Dr. Zahodne: Having more depressive symptoms early on in Alzheimer’s disease was associated with more rapid declines in the ability to handle tasks of everyday living, and this relationship was independent of cognitive decline. MedicalResearch.com: Were any of the findings unexpected? Dr. Zahodne: Previous studies have shown that depressive symptoms are associated with more difficulties with thinking and daily activities. This study additionally shows that depressive symptoms herald not only more rapid declines in thinking, but also daily functioning, over time. (more…)