✦ LIBER ✦

Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase

✍ Scribed by Fred D. Ledley

Book ID: 102758511
Publisher: John Wiley and Sons
Year: 1990
Tongue: English
Weight: 758 KB
Volume: 12
Category: Article
ISSN: 0265-9247
DOI: 10.1002/bies.950120706

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✦ Synopsis

Methylmalonyl CoA mutase deficiency (methylmalonic acidemia) has been a paradigm for biochemical and somatic cell genetic approaches to human disease. Recently, genes encoding this enzyme have been cloned from several species. These studies have provided information about the primary structure and evolution of this enzyme, the mutations which underlie its deficiency state, and the structure-function determinants which are required for its activity. Gene transfer studies now permit restitution of this enzyme to genetically deficient cells and may enable somatic gene therapy to be undertaken. Molecular genetic studies not only provide more detailed information about this enzyme, but introduce new perspectives on the molecular mechanisms and dynamics of its function and raise new questions about the dyshomeostatic consequences of its deficiency.

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