Hepatic mitochondrial dysfunction in Friedreich Ataxia
نویسندگان
چکیده
منابع مشابه
Hepatic mitochondrial dysfunction in Friedreich Ataxia
BACKGROUND Mitochondrial dysfunction due to respiratory chain impairment is a key feature in pathogenesis of Friedreich ataxia. Friedreich ataxia affects the nervous system, heart and pancreas. METHODS We assessed hepatic mitochondrial function by (13)C-methionine-breath-test in 16 Friedreich ataxia patients and matched healthy controls. RESULTS Patients exhaled significantly smaller amount...
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Ataxia-telangiectasia mutated (ATM) plays a central role in DNA damage responses, and its loss leads to development of T-cell malignancies. Here, we show that ATM loss also leads to intrinsic mitochondrial abnormalities in thymocytes, including elevated reactive oxygen species, increased aberrant mitochondria, high cellular respiratory capacity, and decreased mitophagy. A fraction of ATM protei...
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ژورنال
عنوان ژورنال: BMC Neurology
سال: 2011
ISSN: 1471-2377
DOI: 10.1186/1471-2377-11-145