Heterogeneous presentation in A3243G mutation in the mitochondrial tRNALeu(UUR) gene
نویسندگان
چکیده
منابع مشابه
Mitochondrial gene mutation screening in hearing loss patients, Hormozgan, Iran
Introduction: Hearing loss is the most frequent sensory disorder occurs in 1/1000 newborns. About 50% of hearing loss cases are due to genetic causes. Mutation in MTRNR1(A1555G), MTTL1(A3243G) and MTTS1(A7445G) are known to be one of the important cause of nonsyndromic Sensorineural hearing loos in some populations. This study aims to demonstrate the frequency of three mitochondrial mutatio...
متن کاملLack 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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A 6 year old Portuguese boy with dilated cardiomyopathy had abundant ragged red fibres in muscle (20% of total) and severe lactic acidosis. Molecular genetic analysis showed the A to G transition in the mitochondrial transfer RNALeu(UUR) gene at nt 3243 ("MELAS mutation"), which accounted for 88% and 68% of the total mtDNA in his muscle and blood, respectively. Molecular studies in blood from 1...
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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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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 2000
ISSN: 0003-9888
DOI: 10.1136/adc.82.5.407