Mutations in SERAC1 cause MEGDEL syndrome

Brouwer, Arjen de

An interdisciplinary team consisting of Drs. Saskia Wortmann (Pediatrician), Prof Ron Wevers (Laboratory Medicine), Dr. Eva Morava (Pediatrician), and Dr. Arjan de Brouwer (Human Genetics) has shown that mutations in SERAC1 cause MEGDEL syndrome, a dystonia-deafness syndrome. Moreover, they have found that SERAC1 encodes a lipase that remodels phosphatidylglycerol, a central phospholipid for both mitochondrial function and cholesterol trafficking. This study emphasizes the strength of collaboration between different fields of Medicine and will be published in Nature Genetics (online 10th June, DOI10.1038/ng.2325).


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