Tuesday, August 26, 2014

New fly model of MEGF-associated congenital muscle disease

Draper I, Mahoney LJ, Mitsuhashi S, Pacak CA, Salomon RN, Kang PB. Silencing of Drpr Leads to Muscle and Brain Degeneration in Adult Drosophila. Am J Pathol. 2014 Aug 8. pii: S0002-9440(14)00374-5. PMID: 25111228.

From the abstract: "Mutations in the gene encoding the single transmembrane receptor multiple epidermal growth factor-like domain (MEGF) 10 cause an autosomal recessive congenital muscle disease in humans. ... Drpr is the sole Drosophila homolog of the human genes MEGF10, MEGF11, and MEGF12 (JEDI, PEAR). ... Our analysis of drpr mutant flies revealed muscle degeneration with fiber size variability and vacuolization, as well as reduced motor performance, features that have been observed in human MEGF10 myopathy. ... the absence of functional redundancy for Drpr in Drosophila may help elucidate whether paralogs of MEGF10 in humans (eg, MEGF11) contribute to maintaining wild-type function in the human brain."

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