期刊
NEUROMUSCULAR DISORDERS
卷 17, 期 2, 页码 143-147出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2006.10.001
关键词
LGMD2A; CAPN3; calpain-3; real-time RT-PCR; nonsense-mediated mRNA decay
Limb girdle muscular dystrophy type 2A (LGMD2A) is caused by single or small nucleotide changes widespread along the CAPN3 gene, which encodes the muscle-specific proteolytic enzyme calpain-3. About 356 unique allelic variants of CAPN3 have been identified to date. We performed analysis of the CAPN3 gene in LGMD2A patients at both the mRNA level using reverse transcription-PCR, and at the DNA level using PCR and denaturing high performance liquid chromatography. in four patients, we detected homozygous occurence of a missense mutation or an in-frame deletion at the mRNA level although the DNA was heterozygous for this mutation in conjuction with a frame-shift mutation. The relationship observed in 12 patients between the quantity of CAPN3 mRNA, determined using real-time PCR, and the genotype leads us to propose that CAPN3 mRNAs which contain frame-shift mutations are degraded by nonsense-mediated mRNA decay. Our results illustrate the importance of DNA analysis for reliable establishment of mutation status, and provide a new insight into the process of mRNA decay in cells of LGMD2A patients. (C) 2006 Elsevier B.V. All rights reserved.
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