Acute intermittent porphyria: the in vitro expression of mutant hydroxymethylbilane synthase

Ong, PML, Lanyon, WG, Graham, G, Hift, RJ, Halkett, J, Moore, MR and Connor, JM (1997) Acute intermittent porphyria: the in vitro expression of mutant hydroxymethylbilane synthase. Molecular And Cellular Probes, 11 4: 293-296.


Author Ong, PML
Lanyon, WG
Graham, G
Hift, RJ
Halkett, J
Moore, MR
Connor, JM
Title Acute intermittent porphyria: the in vitro expression of mutant hydroxymethylbilane synthase
Journal name Molecular And Cellular Probes   Check publisher's open access policy
ISSN 0890-8508
Publication date 1997
Sub-type Article (original research)
DOI 10.1006/mcpr.1997.0118
Volume 11
Issue 4
Start page 293
End page 296
Total pages 4
Language eng
Abstract Acute intermittent porphyria (AIP) is an inborn error of haem biosynthesis caused by a variety of mutations in the gene coding for hydroxymethylbilane synthase (HMB-S). The entire coding sequence of this gene, from each of three South African AIP patients, was therefore screened for mutations using chemical cleavage mismatch (CCM) analysis and any changes detected characterized by DNA sequencing. Three single base changes were identified; a G(77) to A in exon 3, a C-346 to T in exon 8 and a G(518) to A in exon 10. These missense mutations, previously reported to be present in other populations, are known to be responsible for the structurally deleterious amino acid replacements R26H, R116W and R173Q, respectively. The in vitro expression of the enzymes containing these mutations and the subsequent measurement of their specific activities revealed a reduction to approximately 4% of normal activity. (C) 1997 Academic Press Limited.
Keyword Biochemical Research Methods
Biochemistry & Molecular Biology
Biotechnology & Applied Microbiology
Cell Biology
Acute Intermittent Porphyria
Hydroxymethylbilane Synthase
In Vitro Expression
Specific Activity
Porphobilinogen Deaminase Gene
Protein Stability
Mutations
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: National Research Centre for Environmental Toxicology Publications
 
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