Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases
نویسندگان
چکیده
منابع مشابه
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.
BACKGROUND The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS) and various overlap syndromes. OBJECTIVE To describe a novel mutation in the ND5 gene in a young man man with an overlap syndrome of MELAS and myoclonus epilepsy with ragge...
متن کاملAltered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations.
A number of human diseases are caused by inherited mitochondrial DNA mutations. Two of these diseases, MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) and MERRF (myoclonic epilepsy and ragged-red fibres), are commonly caused by point mutations to tRNA genes encoded by mitochondrial DNA. Here we report on how these mutations affect mitochondrial function ...
متن کاملmutational analysis of mitochondrial trna genes in patients with asthma
background: mitochondria are autonomous cellular organelles that oversee a variety of functions such as metabolism, energy production, calcium buffering, and cell fate determination. most recently, mitochondrial dysfunction caused by mitochondrial mutations played important roles in the pathogenesis of asthma. however, the frequency of mitochondrial trna mutations in asthma is largely unknown. ...
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ژورنال
عنوان ژورنال: Experimental and Molecular Medicine
سال: 2010
ISSN: 1226-3613
DOI: 10.3858/emm.2010.42.6.046