Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.
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ABSTRACT:
SUBMITTER: Agamy O
PROVIDER: S-EPMC2948803 | biostudies-literature | 2010 Oct
REPOSITORIES: biostudies-literature
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Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.
Agamy Orly O Ben Zeev Bruria B Lev Dorit D Marcus Barak B Fine Dina D Su Dan D Narkis Ginat G Ofir Rivka R Hoffmann Chen C Leshinsky-Silver Esther E Flusser Hagit H Sivan Sara S Söll Dieter D Lerman-Sagie Tally T Birk Ohad S OS
American journal of human genetics 20101001 4
The essential micronutrient selenium is found in proteins as selenocysteine (Sec), the only genetically encoded amino acid whose biosynthesis occurs on its cognate tRNA in humans. In the final step of selenocysteine formation, the essential enzyme SepSecS catalyzes the conversion of Sep-tRNA to Sec-tRNA. We demonstrate that SepSecS mutations cause autosomal-recessive progressive cerebellocerebral atrophy (PCCA) in Jews of Iraqi and Moroccan ancestry. Both founder mutations, common in these two p ...[more]
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