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新型ウイルス 中国で新たに96人死亡 死者2441人に

新型コロナウイルスの感染が広がる中国・湖北省の保健当局は、22日新たに96人の死亡が確認されたと発表しました。これで今回の感染拡大による中国での死者は、合わせて...

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FXTAS: regional decrease of mitochondrial DNA copy number relates to clinical manifestations.

著者 Alvarez-Mora MI , Podlesniy P , Gelpi E , Hukema R , Madrigal I , Pagonabarraga J , Trullas R , Mila M , Rodriguez-Revenga L
Genes Brain Behav.2019 Mar 18 ; ():e12565.
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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that appears in at least one-third of adult carriers of a premutation (55-200 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene. Several studies have shown that mitochondrial dysfunction may play a central role in aging and also in neurodegenerative disorders such as Alzheimer's disease, Parkinson's disease, Huntington's disease as well as in FXTAS. It has been recently proposed that mtDNA copy number, measured by the number of mitochondrial genomes per nuclear genome (diploid), could be a useful biomarker of mitochondrial dysfunction. In order to elucidate the role of mtDNA variation in the pathogenesis of FXTAS, mtDNA copy number was quantified by digital droplet PCR. In human brain samples, mtDNA levels were measured in the cerebellar vermis, dentate nucleus, parietal and temporal cortex, thalamus, caudate nucleus and hippocampus from a female FXTAS patient, a FMR1 premutation male carrier without FXTAS and from 3 male controls. The mtDNA copy number was further analyzed using this technology in dermal fibroblasts primary cultures derived from 3 FXTAS patients and 3 controls as well as in cortex and cerebellum of a CGG knock in FXTAS mice model. Finally, qPCR was carried out in human blood samples. Results indicate reduced mtDNA copy number in the specific brain region associated with disease progression in FXTAS patients, providing new insights into the role of mitochondrial dysfunction in the pathogenesis of FXTAS.
PMID: 30887649 [PubMed - as supplied by publisher]
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