Role of connexin 26 (GJB2) & mitochondrial small ribosomal RNA (mt 12S rRNA) genes in sporadic & aminoglycoside-induced non syndromic hearing impairment.

نویسندگان

  • Hema Bindu Lingala
  • Pardhanandana Reddy Penagaluru
چکیده

Non syndromic hearing impairment is a common sensory disorder, which affects one in 600 newborns. Though more than 50 nuclear genes are involved in causing non syndromic hearing impairment, mutations in the connexin 26 (GJB2) gene explain a high proportion of congenital deafness in several populations worldwide. The diversity of genes and genetic loci implicated in hearing loss defines the complexity of the genetic basis of hearing. This review focuses on the role of connexin 26 and mitochondrial 12S rRNA genes in hearing which will be helpful for better understanding of genes in sporadic and aminoglycoside-induced non syndromic hearing impairment.

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

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

LETTER TO JMG Molecular analysis of the mitochondrial 12S rRNA and tRNA genes in paediatric subjects with non- syndromic hearing loss

H earing loss is a very common congenital disorder affecting one in 1000 newborns. More than 50% of deafness cases in the paediatric population have a genetic cause with autosomal dominant, autosomal recessive, X-linked, or mitochondrial patterns of inheritance. Mutations in mitochondrial DNA (mtDNA), particularly in the 12S rRNA and tRNA genes, have been found to be one of the most important c...

متن کامل

Mitochondrial COI/tRNASer(UCN) G7444A mutation may be associated with hearing impairment in a Han Chinese family

Mutations in mitochondrial genome have been found to be associated with hearing loss. Of these, the mitochondrial 12S rRNA and tRNASer(UCN) are the hot spots for pathogenic mutations associated with deafness. To understand the putative role of mitochondrial DNA (mtDNA) mutations in hearing loss, we recently initiated a mutational screening for the mtDNA mutations in Hangzhou area from Zhejiang ...

متن کامل

GJB2 and SLC26A4 gene mutations in children with non-syndromic hearing loss in Southern China

Non-syndromic hearing loss (NSHL) is a major public health issue and affects a substantial proportion of newborns worldwide. Currently little information is available about the molecular etiology of hearing impairment in the Chinese population. Therefore, this study aimed to perform a comprehensive investigation on the genetic mutation patterns of non-syndromic deafness in Zhongshan City, a cit...

متن کامل

Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss

In this study, we report the biochemical characterization of the deafness-associated mitochondrial 12S rRNA C1494T mutation using 27 cybrid cell lines constructed by transferring mitochondria from 9 lymphoblastoid cell lines derived from a Chinese family into human mitochondrial DNA (mtDNA)-less (rho degrees) cells. Six cybrids derived from two asymptomatic members, and nine cybrids derived fro...

متن کامل

Mutation of genes associated with hearing loss levels in the southern Fujian area of China

Objective: The objective of this study is to examine loci’s mutation frequencies for the four widespread deafness-associated genes in Han Chinese with hearing loss in the southern Fujian region and to establish the correlation between hearing loss levels and nucleotide modifications. Methods: Microarray-based mutation was detected nine hot spot mutations of the most prevalent deafness-related g...

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

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

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • The Indian journal of medical research

دوره 130 4  شماره 

صفحات  -

تاریخ انتشار 2009