Prognosis of symptomatic patients with the A3243G mutation of mitochondrial DNA

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Lack of Association of Mitochondrial A3243G tRNALeu Mutation in Iranian Patients with Type 2 Diabetes

Many kinds of mutations in mitochondrial (mt) DNA have been reported to be related to the development of Diabetes Mellitus (DM), this type of diabetes has also been shown to be influenced by other genetic factors and/or environmental factors. Among them, tRNALeu(UUR) and its adjacent mtDNA NADH dehydrogenase subunit 1(ND1) region within the mt genome are linked to high susceptibility to DM. A p...

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Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence

INTRODUCTION The mitochondrial DNA A3243G point mutation is associated with a wide variety of systemic manifestations including a macular dystrophy. The characteristics of fundus autofluorescence (AF) in these patients are distinctive and have not been previously described. METHODS A complete history and ophthalmic examination, including fundus photography and autofluorescence imaging, was pe...

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Mitochondrial A3243G mutation with manifestation of acute dilated cardiomyopathy.

A 35-year-old woman (body mass index, 16 kg/m ; height, 140 cm) presented to the emergency ward with severe dyspnea of acute onset. The medical history was noteworthy for bilateral hypacusis treated with a hearing aid. On admission, the laboratory results revealed an N-terminal prohormone of brain natriuretic peptide level of 10 219 ng/L (normal 200 ng/L). Thoracic CT scan excluded pulmonary em...

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Markedly different clinical features in 2 diabetes mellitus patients with extremely high tissue levels of the mitochondrial DNA A3243G mutation.

BACKGROUND Mitochondrial DNA (mtDNA) A3243G mutation is one of the major causative factors of mitochondrial diabetes mellitus. We found that tissues from 2 of 142 diabetes mellitus patients showed extremely high levels of the mutation. OBJECTIVE To investigate the level of the mutation in each tissue and to find the relationship between the mutation level and clinical features of the patients...

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ژورنال

عنوان ژورنال: Journal of the Formosan Medical Association

سال: 2012

ISSN: 0929-6646

DOI: 10.1016/j.jfma.2011.06.014