Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome
Language English Country England, Great Britain Media print
Document type Comparative Study, Journal Article, Research Support, Non-U.S. Gov't
PubMed
15351423
DOI
10.1016/j.nmd.2004.05.005
PII: S0960896604001312
Knihovny.cz E-resources
- MeSH
- Arginine genetics MeSH
- Child MeSH
- Adult MeSH
- Dysferlin MeSH
- Exons genetics MeSH
- Phenotype * MeSH
- Immunohistochemistry methods MeSH
- Isoenzymes genetics metabolism MeSH
- Calpain genetics metabolism MeSH
- Muscle, Skeletal metabolism pathology MeSH
- Middle Aged MeSH
- Humans MeSH
- Membrane Proteins metabolism MeSH
- RNA, Messenger genetics metabolism MeSH
- Adolescent MeSH
- Mutation * MeSH
- DNA Mutational Analysis methods MeSH
- Muscular Dystrophies, Limb-Girdle genetics metabolism MeSH
- Reverse Transcriptase Polymerase Chain Reaction methods MeSH
- Aged MeSH
- Muscle Proteins genetics metabolism MeSH
- Tryptophan genetics MeSH
- Blotting, Western methods MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Comparative Study MeSH
- Geographicals
- Czech Republic MeSH
- Names of Substances
- Arginine MeSH
- CAPN3 protein, human MeSH Browser
- DYSF protein, human MeSH Browser
- Dysferlin MeSH
- Isoenzymes MeSH
- Calpain MeSH
- Membrane Proteins MeSH
- RNA, Messenger MeSH
- Muscle Proteins MeSH
- Tryptophan MeSH
Calpain3 (CAPN3, p94) is a muscle-specific nonlysosomal cysteine proteinase. Loss of proteolytic function or change of other properties of this enzyme (such as stability or ability to interact with other muscular proteins) is manifested as limb girdle muscular dystrophy type 2A (LGMD2A, calpainopathy). These pathological changes in properties of calpain3 are caused by mutations in the calpain3 gene. The fact that the human gene for calpain3 is quite long led us to analyse its coding sequence by reverse transcription-PCR followed by sequence analysis. This study reports nine mutations that we found by analysing mRNA of seven unrelated LGMD patients in the Czech Republic. Three of these mutations were novel, not described on the Leiden muscular dystrophy pages so far. Further, we observed a reduction of dysferlin in muscle membrane in five of our seven LGMD2A patients by immunohistochemical analysis of muscle sections.
References provided by Crossref.org
