Complex I and ATP Content Deficiency in Lymphocytes from Friedreich's Ataxia
نویسندگان
چکیده
منابع مشابه
complex i and atp content deficiency in lymphocytes from friedreichs ataxia
friedreichs ataxia (frda) is an inherited recessive disorder characterized by progressive neurological disability and heart abnormalities. a deficiency in the protein frataxin causes this disease. frataxin deficiency leads to progressive iron accumulation in mitochondria, excessive free radical production and dysfunction of respiratory chain complexes. the expansion (gaa) repeat in the first in...
متن کاملComplex I and ATP content deficiency in lymphocytes from Friedreich's ataxia.
BACKGROUND Friedreich's ataxia (FRDA) is an inherited recessive disorder characterized by progressive neurological disability and heart abnormalities. A deficiency in the protein frataxin causes this disease. Frataxin deficiency leads to progressive iron accumulation in mitochondria, excessive free radical production and dysfunction of respiratory chain complexes. The expansion (GAA) repeat in ...
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The aims of this study were to: (1) evaluate the perceptual speech dimensions, speech intelligibility and dys arthria severity of a group of individuals diagnosed with Friedreich’s ataxia (FRDA); (2) determine the presence of subgroups within FRDA dysarthria; (3) investigate the relationship between the speech outcome and the clinical factors of disease progression. The study included 38 indivi...
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multiple sclerosis (ms) is a demyelinating disease of the central nervous system characterized by morphological hallmarks of inflammation, demyelination and axonal loss. to date, little attention has been paid to the contribution of mitochondrial respiratory chain enzyme activities to ms. in this study, kinetic analysis of mitochondrial respiratory chain complex i enzyme (measured as nadh ferri...
متن کاملA gene expression phenotype in lymphocytes from Friedreich ataxia patients.
OBJECTIVE Gene expression studies in peripheral tissues from patients with neurodegenerative disorders can provide insights into disease pathogenesis, and identify potential biomarkers, an important goal of translational research in neurodegeneration. Friedreich Ataxia (FRDA) is a chronic neurodegenerative disease caused by reduced transcription of frataxin, a ubiquitously expressed protein. We...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 2009
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s0317167100006260