Manuel Menéndez: Late-onset Alzheimer's disease is associated with mitochondrial DNA 7028C/haplogroup H and D310 poly-C tract heteroplasmy.

Herein we report a significant association between the mtDNA 7028 C allele and LOAD. LOAD patients also showed a higher frequency of D310 >7C alleles, that were linked to a high degree of heteroplasmy at this polyC tract. The mtDNA 7028C + D310>7C haplogroup would thus represent a new genetic marker for LOAD.

Neurogenetics. 2011 Nov;12(4):345-6 Full text

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I am a neurologist (at Hospital Universitario Central de Asturias, Oviedo) and professor of neurology (at Oviedo University) with research experience in clinical and translational neuroscience (at Oviedo University and at Instituto de Investigación Sanitaria del Principado de Asturias). I am focused on exploring the 360º panoramic of neurodegenerative diseases: from neuropsychology to neuroimaging and from neurogenetics to phenotypes. In the last few years, I have been particularly interested in understanding the molecular mechanisms of neurodegeneration: genes, RNA, and proteins; and in studying brain clearance systems and the molecular dynamics between cells, the interstitial fluid, and the cerebrospinal fluid. I am also interested in developing new systems for targeted drug delivery to the CNS.

Manuel Menéndez

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Late-onset Alzheimer's disease is associated with mitochondrial DNA 7028C/haplogroup H and D310 poly-C tract heteroplasmy.

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