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Muscular myopathies other than myotonic dystrophy also associated with (CTG)(n) expansion at the DMPK locus

OBJECTIVE: Assess triplet repeat expansion (CTG)(n) at the ‘dystrophia-myotonica protein kinase’ (DMPK) locus in muscular myopathies to elucidate its role in myopathic symptoms and enable genetic counseling and prenatal diagnosis in families. METHODS AND RESULTS: Individuals with symptoms of myopath...

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Autores principales: Mohan, Vasavi, Ahuja, Y. R., Hasan, Qurratulain
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611902/
https://www.ncbi.nlm.nih.gov/pubmed/23560000
http://dx.doi.org/10.4103/1817-1745.106471
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author Mohan, Vasavi
Ahuja, Y. R.
Hasan, Qurratulain
author_facet Mohan, Vasavi
Ahuja, Y. R.
Hasan, Qurratulain
author_sort Mohan, Vasavi
collection PubMed
description OBJECTIVE: Assess triplet repeat expansion (CTG)(n) at the ‘dystrophia-myotonica protein kinase’ (DMPK) locus in muscular myopathies to elucidate its role in myopathic symptoms and enable genetic counseling and prenatal diagnosis in families. METHODS AND RESULTS: Individuals with symptoms of myopathy, hypotonia and controls selected randomly from the population were evaluated for triplet repeat expansion of (CTG)(n) repeats in the 3’untranslated region (UTR) of DMPK gene, the causative mutation in myotonic dystrophy (DM). DNA was isolated from peripheral blood of 40 individuals; they presented symptoms of muscle myopathy (n = 11), muscle hypotonia (n = 4), members of their families (n = 5) and control individuals from random population (n = 20). Molecular analysis of genomic DNA by polymerase chain reaction (PCR) using primers specific for the DMPK gene encompassing the triplet repeat expansion, showed that all controls (n = 20) gave a 2.1 kb band indicating normal triplet repeat number. Three out of 11 cases (two clinically diagnosed DM and one muscular dystrophy) had an expansion of the (CTG)(n) repeat in the range of 1000-2100 repeats corresponding to the repeat number in cases of severe DM. Other two of these 11 cases, showed a mild expansion of ~ 66 repeats. Three samples, which included two cases of hypotonia and the father of a subject with muscular dystrophy, also gave a similar repeat expansion (~66 repeats). CONCLUSION: Results suggest a role of (CTG)(n) expansion at the DMPK locus in unexplained hypotonias and muscular myopathies other than DM. This calls for screening of the triplet repeat expansion at the DMPK locus in cases of idiopathic myopathies and hypotonia.
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spelling pubmed-36119022013-04-04 Muscular myopathies other than myotonic dystrophy also associated with (CTG)(n) expansion at the DMPK locus Mohan, Vasavi Ahuja, Y. R. Hasan, Qurratulain J Pediatr Neurosci Original Article OBJECTIVE: Assess triplet repeat expansion (CTG)(n) at the ‘dystrophia-myotonica protein kinase’ (DMPK) locus in muscular myopathies to elucidate its role in myopathic symptoms and enable genetic counseling and prenatal diagnosis in families. METHODS AND RESULTS: Individuals with symptoms of myopathy, hypotonia and controls selected randomly from the population were evaluated for triplet repeat expansion of (CTG)(n) repeats in the 3’untranslated region (UTR) of DMPK gene, the causative mutation in myotonic dystrophy (DM). DNA was isolated from peripheral blood of 40 individuals; they presented symptoms of muscle myopathy (n = 11), muscle hypotonia (n = 4), members of their families (n = 5) and control individuals from random population (n = 20). Molecular analysis of genomic DNA by polymerase chain reaction (PCR) using primers specific for the DMPK gene encompassing the triplet repeat expansion, showed that all controls (n = 20) gave a 2.1 kb band indicating normal triplet repeat number. Three out of 11 cases (two clinically diagnosed DM and one muscular dystrophy) had an expansion of the (CTG)(n) repeat in the range of 1000-2100 repeats corresponding to the repeat number in cases of severe DM. Other two of these 11 cases, showed a mild expansion of ~ 66 repeats. Three samples, which included two cases of hypotonia and the father of a subject with muscular dystrophy, also gave a similar repeat expansion (~66 repeats). CONCLUSION: Results suggest a role of (CTG)(n) expansion at the DMPK locus in unexplained hypotonias and muscular myopathies other than DM. This calls for screening of the triplet repeat expansion at the DMPK locus in cases of idiopathic myopathies and hypotonia. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3611902/ /pubmed/23560000 http://dx.doi.org/10.4103/1817-1745.106471 Text en Copyright: © Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Mohan, Vasavi
Ahuja, Y. R.
Hasan, Qurratulain
Muscular myopathies other than myotonic dystrophy also associated with (CTG)(n) expansion at the DMPK locus
title Muscular myopathies other than myotonic dystrophy also associated with (CTG)(n) expansion at the DMPK locus
title_full Muscular myopathies other than myotonic dystrophy also associated with (CTG)(n) expansion at the DMPK locus
title_fullStr Muscular myopathies other than myotonic dystrophy also associated with (CTG)(n) expansion at the DMPK locus
title_full_unstemmed Muscular myopathies other than myotonic dystrophy also associated with (CTG)(n) expansion at the DMPK locus
title_short Muscular myopathies other than myotonic dystrophy also associated with (CTG)(n) expansion at the DMPK locus
title_sort muscular myopathies other than myotonic dystrophy also associated with (ctg)(n) expansion at the dmpk locus
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611902/
https://www.ncbi.nlm.nih.gov/pubmed/23560000
http://dx.doi.org/10.4103/1817-1745.106471
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