Dilated cardiomyopathy due to deficient protein glycosylation

Lefeber, Dirk

Researchers from the IGMD (Theme Glycosylation Disorders, Dirk Lefeber, Eva Morava and Ron Wevers) worked together with researchers from Israel and the department of Human Genetics (Arjan de Brouwer, Hans van Bokhoven) to unravel a novel cause for idiopathic dilated cardiomyopathy. The key to identification of the defective dolichol kinase gene (DOLK) and underlying pathomechanism was the finding of abnormal protein N-glycosylation. Extensive biochemical studies in affected heart tissue, available after heart transplantation, lead to the finding of deficient O-mannosylation of the heart sarcolemmal protein alpha-dystroglycan, which could be correlated to the occurrence of dilated cardiomyopathy.

Publication in PlosGenetics: http://www.plosgenetics.org/doi/pgen.1002427

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