Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome
| Autor: | Iva Kroupová, Táňa Chrobáková, Petr Vondráček, Radim Mazanec, Jan Staněk, Lenka Fajkusová, Tat’ána Maříková, Markéta Hermanová, Josef Zamecnik, Miluše Havlová |
|---|---|
| Rok vydání: | 2004 |
| Předmět: |
Adult
Male Adolescent Sequence analysis Blotting Western DNA Mutational Analysis Muscle Proteins Biology Arginine Dysferlin 03 medical and health sciences 0302 clinical medicine medicine Humans Coding region RNA Messenger Muscular dystrophy Child Muscle Skeletal Gene Genetics (clinical) Aged Czech Republic 030304 developmental biology Genetics 0303 health sciences Messenger RNA Calpain Reverse Transcriptase Polymerase Chain Reaction Tryptophan Membrane Proteins Exons Middle Aged medicine.disease Immunohistochemistry Phenotype Isoenzymes Muscular Dystrophies Limb-Girdle Neurology Mutation Pediatrics Perinatology and Child Health biology.protein Female Neurology (clinical) 030217 neurology & neurosurgery Limb-girdle muscular dystrophy |
| Zdroj: | Neuromuscular Disorders. 14:659-665 |
| ISSN: | 0960-8966 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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