Diabetes Mellitus, Deafness, Muscle Weakness and Hypocalcemia in a Patient with an A3243G Mutation of the Mitochondrial DNA.
نویسندگان
چکیده
منابع مشابه
A novel mutation in mitochondrial DNA in a patient with diabetes, deafness and proteinuria.
Maternally inherited deafness and diabetes (MIDD) is characterised by a defect in insulin secretion and bilateral hearing impairment. The m.3243A>G mutation is the most reported in mitochondrial DNA (mtDNA) causing MIDD, although other, rare, mtDNA point mutations have also been mentioned. We report on a 28-year-old Caucasian woman with a history of diabetes, kidney disease, deafness, diarrhoea...
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 کاملMarkedly 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...
متن کاملComparison of mitochondrial A3243G mutation loads in easily accessible samples from a family with maternally inherited diabetes and deafness.
The mitochondrial A3243G mutation is most commonly related to the MELAS syndrome, but can cause many different clinical manifestations at various ages. Here, we present a family with maternally inherited diabetes and deafness (MIDD), the proband of which exhibits hearing loss, diabetes mellitus, cardiomyopathy and short stature. Four easily accessible samples (whole blood, hair roots, buccal sc...
متن کامل[Audiologic evaluation in a family showing diabetes mellitus and deafness associated with a mutation in mitochondrial DNA].
An A to G transition at nucleotide 3,243 in the tRNA(Leu)(UUR) gene of mitochondrial DNA has recently been identified as a pathogenic point mutation which is associated with diabetes mellitus and sensorineural deafness in several pedigrees. We have also reported a family showing the association of deafness and diabetes mellitus as the predominant clinical features with this mutation. Audiologic...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2000
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.39.249