In:
Science, American Association for the Advancement of Science (AAAS), Vol. 330, No. 6002 ( 2010-10-15), p. 336-336
Abstract:
Heterozygous somatic mutations in the genes encoding isocitrate dehydrogenase-1 and -2 ( IDH1 and IDH2 ) were recently discovered in human neoplastic disorders. These mutations disable the enzymes’ normal ability to convert isocitrate to 2-ketoglutarate (2-KG) and confer on the enzymes a new function: the ability to convert 2-KG to d -2-hydroxyglutarate (D-2-HG). We have detected heterozygous germline mutations in IDH2 that alter enzyme residue Arg 140 in 15 unrelated patients with d -2-hydroxyglutaric aciduria (D-2-HGA), a rare neurometabolic disorder characterized by supraphysiological levels of D-2-HG. These findings provide additional impetus for investigating the role of D-2-HG in the pathophysiology of metabolic disease and cancer.
Type of Medium:
Online Resource
ISSN:
0036-8075
,
1095-9203
DOI:
10.1126/science.1192632
Language:
English
Publisher:
American Association for the Advancement of Science (AAAS)
Publication Date:
2010
detail.hit.zdb_id:
128410-1
detail.hit.zdb_id:
2066996-3
detail.hit.zdb_id:
2060783-0
SSG:
11
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