Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 20920667.
- Also identified by DOI 10.1016/j.ajhg.2010.09.007 and PMC identifier 2948803.
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Abstract
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 populations, disrupt the sole route to the biosynthesis of the 21st amino acid, Sec, and thus to the generation of selenoproteins in humans.
Medical subject headings
- Amino Acyl-tRNA Synthetases
- Cerebellum
- Cerebral Cortex
- Heredodegenerative Disorders, Nervous System
- Jews
- Selenocysteine