जेनेटिक सिंड्रोम और जीन थेरेपी जर्नल

जेनेटिक सिंड्रोम और जीन थेरेपी जर्नल
खुला एक्सेस

आईएसएसएन: ISSN: 2157-7412


Treatment of Autosomal Nonsyndromic Congenital Deafness by AAV Mediated Gene Therapy

Maryam Fatima

Every human disease undergoes many critical diagnostic methods to locate the reason behind the abnormality. About 50percent of deafness issues which account due to some genetic defects have been reported and 93 percent of these genetic deafness issues are monogenic autosomal recessive traits. DFNB is known for the majority of congenital deafness cases and it has different types based on varying loci. Among them, DFNB9, the autosomal recessive disorder, occurs due to the heterozygous mutation in OTOF gene (coding Otoferlin protein) present on chromosome 2p23. Today, the major advancement in the study of human deafness is the preparation of mouse models for different types of Nonsyndromic autosomal recessive deafness. Genetics has played a vital part in medicine because genomics study gives many critical hints about any abnormality in biological processes which may cause disease. This can be apprehended by the fact that proteins coded by genes play an essential role in the hearing process. With the advancement in treatment methods, gene therapy is the talk of the town today. AAV mediated gene therapy is considered as most promising technique nowadays. Adenovirus possesses many impressive qualities which make them efficient vectors to be used in the transduction of genes. The use of AAV has been reported for transducing hair cells as well as other cell types. Different experimentations have reported the delivery of AAV stereotypes to the neonatal mouse as a source of treating congenital hearing loss by targeting a wide range of chromosome loci.