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CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18).

Abstract：

:Corticosterone methyloxidase I (CMO I) deficiency is an autosomal recessive disorder of aldosterone biosynthesis. To determine further the molecular genetic basis of CMO I deficiency, a patient of Turkish origin that suffered from CMO I deficiency was studied. Nucleotide sequencing of the PCR-amplified exons from the genomic DNA of this patient revealed a single point mutation CTG (leucine) CCG (proline) at codon 461 in exon 8 of CYP11B2, which is involved in the putative heme binding site of steroid 18-hydroxylase (P450(C18)). The expression study using a cDNA introducing the point mutation revealed that the amino acid substitution totally abolishes the P450(C18)p3 enzyme activities required for conversion of 11-deoxycorticosterone to aldosterone, even though the mutant product was detected in the mitochondrial fraction of the transfected cells. These results suggest that this point mutation causes CMO I deficiency.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Nomoto S,Massa G,Mitani F,Ishimura Y,Miyahara K,Toda K,Nagano I,Yamashiro T,Ogoshi S,Fukata J,Onishi S,Hashimoto K,Doi Y,Imura H,Shizuta Y

doi

10.1006/bbrc.1997.6651

subject

Has Abstract

pub_date

1997-05-19 00:00:00

pages

382-5

issue

2

eissn

0006-291X

issn

1090-2104

pii

S0006291X97966511

journal_volume

234

pub_type

杂志文章

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