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A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient
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...
Autores principales: | , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2896338/ https://www.ncbi.nlm.nih.gov/pubmed/20550661 http://dx.doi.org/10.1186/1744-9081-6-33 |
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author | Gupta, Arnab Chattopadhyay, Ishita Mukherjee, Shashwata Sengupta, Mainak Das, Shyamal K Ray, Kunal |
author_facet | Gupta, Arnab Chattopadhyay, Ishita Mukherjee, Shashwata Sengupta, Mainak Das, Shyamal K Ray, Kunal |
author_sort | Gupta, Arnab |
collection | PubMed |
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 genotype-phenotype correlation between the detected changes and the atypical presentation of the WD patient. |
format | Text |
id | pubmed-2896338 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-28963382010-07-03 A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient Gupta, Arnab Chattopadhyay, Ishita Mukherjee, Shashwata Sengupta, Mainak Das, Shyamal K Ray, Kunal Behav Brain Funct Short Paper 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 genotype-phenotype correlation between the detected changes and the atypical presentation of the WD patient. BioMed Central 2010-06-15 /pmc/articles/PMC2896338/ /pubmed/20550661 http://dx.doi.org/10.1186/1744-9081-6-33 Text en Copyright ©2010 Gupta et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Short Paper Gupta, Arnab Chattopadhyay, Ishita Mukherjee, Shashwata Sengupta, Mainak Das, Shyamal K Ray, Kunal A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient |
title | A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient |
title_full | A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient |
title_fullStr | A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient |
title_full_unstemmed | A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient |
title_short | A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient |
title_sort | novel commd1 mutation thr174met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a wilson disease patient |
topic | Short Paper |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2896338/ https://www.ncbi.nlm.nih.gov/pubmed/20550661 http://dx.doi.org/10.1186/1744-9081-6-33 |
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