Congenital lactic acidosis: Evaluation of the properties of the A199T natural variant of human pyruvate dehydrogenase E1 alpha by in vitro mutation

Citation
Yg. Wu et al., Congenital lactic acidosis: Evaluation of the properties of the A199T natural variant of human pyruvate dehydrogenase E1 alpha by in vitro mutation, MOL GEN MET, 72(3), 2001, pp. 269-272
Citations number
17
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
MOLECULAR GENETICS AND METABOLISM
ISSN journal
1096-7192 → ACNP
Volume
72
Issue
3
Year of publication
2001
Pages
269 - 272
Database
ISI
SICI code
1096-7192(200103)72:3<269:CLAEOT>2.0.ZU;2-C
Abstract
One cause of congenital lactic acidosis is a mutation in the E1 alpha -subu nit of the pyruvate dehydrogenase multienzyme complex. Little is known abou t the consequences of these mutations at the enzymatic level. Here we study the A199T mutation by expressing the protein in Escherichia coil. The spec ific activity is 25% of normal and the K-m for pyruvate is elevated by 10-f old. Inhibitors of lactate dehydrogenase might be a useful therapy for pati ents with such mutations. (C) 2001 Academic Press.