Searching for A3243G mitochondrial DNA mutation in buccal mucosa in order to improve the screening of patients with mitochondrial diabetes
نویسندگان
چکیده
منابع مشابه
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...
متن کاملMitochondrial 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 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 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...
متن کاملMitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis
Auteur Verny, Christophe [1], Amati-Bonneau, Patrizia [2], Letournel, Franck [3], Person, Bruno [4], Dib, Nina [5], Malinge, Marie-Claire [6], Slama, A. [7], Le Maréchal, C. [8], Ferec, C. [9], Procaccio, Vincent [10], Reynier, Pascal [11], Bonneau, Dominique [12] Editeur Elsevier Masson Type Article scientifique dans une revue à comité de lecture Année 2008 Date 2008/12 Numéro 6 Pagination 620...
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ژورنال
عنوان ژورنال: European Journal of Endocrinology
سال: 2001
ISSN: 0804-4643,1479-683X
DOI: 10.1530/eje.0.1450541