Mitochondrial A3243G mutation results in corneal endothelial polymegathism
نویسندگان
چکیده
منابع مشابه
Corneal endothelial polymegathism induced by PMMA contact lens wear.
Central corneal endothelial photographs were taken for 15 persons who had worn polymethylmethacrylate (PMMA) contact lenses for 7-15 yr and for a nonwearing control group matched for age and sex. An individual cell area analysis was made from the cell tracings. Significant endothelial polymegathism was noted for each member of the contact lens wearing group. PMMA wearers showed an average coeff...
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...
متن کاملMitochondrial 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...
متن کاملThe mitochondrial A3243G mutation presenting as severe cardiomyopathy.
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...
متن کاملMitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis.
AIMS To report on a family with five members who carry the A3243G mutation in mitochondrial tRNA for leucine 1 (MTTL1) and present with diabetes, chronic intestinal pseudo-obstruction (CIPO) and recurrent pancreatitis, and to screen for this mutation in a cohort of 36 unrelated patients with recurrent pancreatitis. METHODS The mutation was quantified in several tissue samples from patients. R...
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ژورنال
عنوان ژورنال: Graefe's Archive for Clinical and Experimental Ophthalmology
سال: 2018
ISSN: 0721-832X,1435-702X
DOI: 10.1007/s00417-018-3961-5