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University of Massachusetts Medical School Faculty Publications

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Congenital muscular dystrophy

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Full-Text Articles in Cell Biology

Immortalized Myogenic Cells From Congenital Muscular Dystrophy Type1a Patients Recapitulate Aberrant Caspase Activation In Pathogenesis: A New Tool For Mdc1a Research, Soonsang Yoon, Guido Stadler, Mary Lou Beermann, Eric V. Schmidt, James A. Windelborn, Peter Schneiderat, Woodring E. Wright, Jeffrey Boone Miller Dec 2013

Immortalized Myogenic Cells From Congenital Muscular Dystrophy Type1a Patients Recapitulate Aberrant Caspase Activation In Pathogenesis: A New Tool For Mdc1a Research, Soonsang Yoon, Guido Stadler, Mary Lou Beermann, Eric V. Schmidt, James A. Windelborn, Peter Schneiderat, Woodring E. Wright, Jeffrey Boone Miller

University of Massachusetts Medical School Faculty Publications

BACKGROUND: Congenital muscular dystrophy Type 1A (MDC1A) is a severe, recessive disease of childhood onset that is caused by mutations in the LAMA2 gene encoding laminin-alpha2. Studies with both mouse models and primary cultures of human MDC1A myogenic cells suggest that aberrant activation of cell death is a significant contributor to pathogenesis in laminin-alpha2-deficiency.

METHODS: To overcome the limited population doublings of primary cultures, we generated immortalized, clonal lines of human MDC1A myogenic cells via overexpression of both CDK4 and the telomerase catalytic component (human telomerase reverse transcriptase (hTERT)).

RESULTS: The immortalized MDC1A myogenic cells proliferated indefinitely when cultured at ...