Coenzyme Q deficiency in two unrelated patients-molecular studies

Z. Vajó, Arnold Munnich, Douglas J. Wilkin, Eliot A. Brinton

Research output: Contribution to journalArticle

Abstract

Coenzyme Q (CoQ) is a key lipid component in the mitochondrial respiratory chain. Unambiguous and severe CoQ deficiency associated with encephalomyopathy has been reported in only two patients. We tested both patients for mutations in the COQ7 cDNA, the only identified human gene involved in CoQ biosynthesis and show that their CoQ deficiency does not result from mutations in the COQ7 Coding region. It is possible the CoQ deficiency in these individuals results from a mutation in another yet unidentified CoQ biosynthesis gene.

Original languageEnglish
Pages (from-to)69-72
Number of pages4
JournalPediatric Pathology and Molecular Medicine
Volume19
Issue number1
Publication statusPublished - Jan 2000

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Ubiquinone
Mutation
vif Genes
Electron Transport
Complementary DNA
Lipids
Genes
Coenzyme Q10 Deficiency

Keywords

  • Coenzyme Q

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Pediatrics, Perinatology, and Child Health

Cite this

Coenzyme Q deficiency in two unrelated patients-molecular studies. / Vajó, Z.; Munnich, Arnold; Wilkin, Douglas J.; Brinton, Eliot A.

In: Pediatric Pathology and Molecular Medicine, Vol. 19, No. 1, 01.2000, p. 69-72.

Research output: Contribution to journalArticle

Vajó, Z, Munnich, A, Wilkin, DJ & Brinton, EA 2000, 'Coenzyme Q deficiency in two unrelated patients-molecular studies', Pediatric Pathology and Molecular Medicine, vol. 19, no. 1, pp. 69-72.
Vajó, Z. ; Munnich, Arnold ; Wilkin, Douglas J. ; Brinton, Eliot A. / Coenzyme Q deficiency in two unrelated patients-molecular studies. In: Pediatric Pathology and Molecular Medicine. 2000 ; Vol. 19, No. 1. pp. 69-72.
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