A Novel COMMD1 Mutation Thr174Met associated with Elevated Urinary Copper and Signs of Enhanced Apoptotic Cell death in a Wilson Disease patient
IR@IICB: CSIR-Indian Institute of Chemical Biology, Kolkata
View Archive Info| Field | Value | |
| Title |
A Novel COMMD1 Mutation Thr174Met associated
with Elevated Urinary Copper and Signs of
Enhanced Apoptotic Cell death in a Wilson Disease
patient
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| Creator |
Gupta, Arnab
Chattopadhyay, Ishita Mukherjee, Shashwata Sengupta, Mainak Das, Shyamal Ray, Kunal |
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| Subject |
Molecular & Human Genetics
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| Description |
Wilson disease (WD) results from accumulation of copper and caused due to mutations in ATP7B, a copper
transporting ATPase. Besides regular hepatic and neurological symptoms, WD patients occasionally manifest atypical
symptoms due to unknown cause. To understand the molecular etiology of atypical WD manifestations, we screened
COMMD1, a gene implicated in canine copper toxicosis, in 109 WD patients including those with atypical symptoms. In
a patient showing apoptotic symptoms and high urinary copper surpassing normal WD levels, we identified a novel,
putative mutation in COMMD1. Two other changes were also identified in the gene. We have examined genotypephenotype
correlation between the detected changes and the atypical presentation of the WD patient.
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| Date |
2010
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| Type |
Article
PeerReviewed |
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| Format |
application/pdf
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| Identifier |
http://www.eprints.iicb.res.in/25/1/BEHAVIORAL_AND_BRAIN_FUNCTIONS_6_Article_Number_33__;2011[68].pdf
Gupta, Arnab and Chattopadhyay, Ishita and Mukherjee, Shashwata and Sengupta, Mainak and Das, Shyamal and Ray, Kunal (2010) A Novel COMMD1 Mutation Thr174Met associated with Elevated Urinary Copper and Signs of Enhanced Apoptotic Cell death in a Wilson Disease patient. Behavioral and Brain Functions, 6 (33). |
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| Relation |
http://dx.doi.org/10.1186/1744-9081-6-33
http://www.eprints.iicb.res.in/25/ |
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