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Genetic Analysis of Wilson Disease in a South Indian Population and Molecular Characterization of 13 Novel ATP7B Mutations

Electronic Theses of Indian Institute of Science

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Title Genetic Analysis of Wilson Disease in a South Indian Population and Molecular Characterization of 13 Novel ATP7B Mutations
 
Creator Singh, Nivedita
 
Subject Wilson Disease
TRIM36
ATP7B Mutations
PLA2G6
Non-Wilsonian Hepatolenticular Degeneration
Molecular Reproduction
 
Description Wilson disease (WD) is an autosomal recessive disorder characterized by deposition of copper in the body, mainly in the liver and brain. WD patients present with hepatic, neurological, and psychiatric problems. The diagnosis of WD is very challenging, and is performed by taking
into account both clinical and biochemical parameters. The treatment of WD exists, which aims at initial chelation therapy followed by maintenance therapy. WD is caused by mutations in the ATP7B gene. Till date, more than 600 mutations in ATP7B have already been described from many countries, including India. However, there are a very few large cohort studies which are
reported from Indian population. In this study, we have attempted to perform mutation analysis of ATP7B in a large cohort of WD families from Bangalore, south India, and further look into the molecular consequences of the novel mutations identified in the present study.
 
Contributor Kumar, Arun
 
Date 2018-03-15T09:40:30Z
2018-03-15T09:40:30Z
2018-03-15
2017
 
Type Thesis
 
Identifier http://hdl.handle.net/2005/3273
 
Language en_US
 
Relation G28467