Hearing Impairment Is Common in Various Phenotypes of the Mitochondrial DNA A3243G Mutation

نویسندگان

چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation.

OBJECTIVE To determine whether there are common symptoms within different phenotypes of the mitochondrial DNA A3243G mutation. DESIGN A series of 52 adults with mitochondrial encephalomyopathies and their symptomatic relatives were screened for the A3243G mutation using restriction enzyme analysis. In addition to clinical examination, patients with the mutation underwent audiometry. RESULTS...

متن کامل

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 کامل

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 کامل

Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis.

Testing for common mutations in mitochondrial DNA (mtDNA), including the A3243G MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) mutation, is routinely done in DNA isolated from blood. Since the blood level of the A3243G mutation may be low in probands and even lower in asymptomatic or oligosymptomatic maternal relatives, we assessed the proportion of A3243G mut...

متن کامل

Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment

Autosomal recessive hearing impairment with postlingual onset is rare. Exceptions are caused by mutations in the TMPRSS3 gene, which can lead to prelingual (DFNB10) as well as postlingual deafness (DFNB8). TMPRSS3 mutations can be classified as mild or severe, and the phenotype is dependent on the combination of TMPRSS3 mutations. The combination of two severe mutations leads to profound hearin...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Archives of Neurology

سال: 2001

ISSN: 0003-9942

DOI: 10.1001/archneur.58.11.1885