Clinica chimica acta; international journal of clinical chemistry · 2009
Mitochondrial DNA damage in spinal and bulbar muscular atrophy patients and carriers.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Su Shihli, Jou Shawhwa, Cheng Wenling, Lin Tatsung, Li Jieyuan, Huang Chinchang, Lee Yichung, Soong Bingwen, Liu Chinsan
Аннотация
BACKGROUND: Mitochondrial DNA (mtDNA) damage may be involved in the pathogenesis of spinal and bulbar muscular atrophy (SBMA).
METHODS: We recruited 20 SBMA patients, 20 SBMA female carriers, and 20 normal age-matched subjects. Mitochondrial DNA damage in the 3 groups of subjects was evaluated using three novel mtDNA oxidative markers: mtDNA copy number, 4977 bp deletion of mtDNA (mtDNA4977) and oxidative modification of mtDNA index (mtDNA(DeltaCT)) in leukocytes.
RESULTS: Decreased leukocyte mtDNA copy number, increased mtDNA(DeltaCT) value, and increased frequency of mtDNA4977 which correspond to the number of CAG repeats in the mutated androgen receptor gene, were found not only in SBMA patients but also in female carriers.
CONCLUSIONS: Leukocyte mtDNA copy number, mtDNA(DeltaCT) and mtDNA4977 may serve as useful biomarkers of mtDNA damage and can be used to monitor SBMA disease progression.
METHODS: We recruited 20 SBMA patients, 20 SBMA female carriers, and 20 normal age-matched subjects. Mitochondrial DNA damage in the 3 groups of subjects was evaluated using three novel mtDNA oxidative markers: mtDNA copy number, 4977 bp deletion of mtDNA (mtDNA4977) and oxidative modification of mtDNA index (mtDNA(DeltaCT)) in leukocytes.
RESULTS: Decreased leukocyte mtDNA copy number, increased mtDNA(DeltaCT) value, and increased frequency of mtDNA4977 which correspond to the number of CAG repeats in the mutated androgen receptor gene, were found not only in SBMA patients but also in female carriers.
CONCLUSIONS: Leukocyte mtDNA copy number, mtDNA(DeltaCT) and mtDNA4977 may serve as useful biomarkers of mtDNA damage and can be used to monitor SBMA disease progression.