CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450(C18))

Satoshi Nomoto, Guy Massa, Fumiko Mitani, Yuzuru Ishimura, Kaoru Miyahara, Katsumi Toda, Isao Nagano, Toshiyuki Yamashiro, Shohei Ogoshi, Jun Ichi Fukata, Saburo Onishi, Kozo Hashimoto, Yoshinori Doi, Hiroo Imura, Yutaka Shizuta

Research output: Contribution to journalArticlepeer-review

32 Citations (Scopus)

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) 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.

Original languageEnglish
Pages (from-to)382-385
Number of pages4
JournalBiochemical and Biophysical Research Communications
Volume234
Issue number2
DOIs
Publication statusPublished - May 19 1997

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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