Differential expression of the pyruvate dehydrogenase E1alpha normal and mutated gene in 3 female patients and a carrier mother.

Linda De Meirleir, Willy Lissens, Ingeborg Liebaers

Research output: Chapter in Book/Report/Conference proceedingMeeting abstract (Book)

Abstract

Pyruvate dehydrogenase (PDH) E1alpha deficiency is an X-linked affecting about equal numbers of males and females. In females, the disease is caused by heterozygous mutations and tissue-dependent non-random inactivation of the normal X chromosome. Cultured skin fibroblasts are mostly used for the biochemical diagnosis of the patients suspected of PDH E1alpha deficiency, but the unequal expression of both X chromosomes may obscure the deficiency in females in this tissue.
We have studied the expression of the PDH E1alpha gene through fibroblast cDNA analysis of 3 female patients with known mutations and the unaffected carrier mother of a male patient. Two patients have both low enzyme activity and preferential expression of the mutated PDH E1alpha gene, while the third patient and the carrier mother have almost normal activity and predominant expression of the normal PDH E1alpha allele. Two patients, one in each group, carry the same mutation but show different expression of the mutated PDH E1alpha gene.
Our results confirm that the diagnosis of PDH E1alpha deficiency in females may be difficult or impossible by studying enzyme activity in fibroblasts. We therefore propose the use of a screening method based on single-strand conformation polymorphism analysis of the 11 PDH E1alpha exons to circumvent this problem.
Original languageEnglish
Title of host publication31th SSIEM Manchester, UK
Pages83-83
Number of pages1
Publication statusPublished - 1993
EventUnknown -
Duration: 1 Jan 1993 → …

Conference

ConferenceUnknown
Period1/01/93 → …

Keywords

  • PDH E1alpha gene
  • PDH deficiency

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