Deux phenotypes distincts pour un meme genotype chez deux freres ayant un deficit complet en triose phosphate isomerase

Colette Valentin, Michel Cohen-Solal, Lynne Maquat, M. Horányi, Marianne Inselt-Kovács, S. Hollán

Research output: Article

12 Citations (Scopus)

Abstract

We describe here a new stop mutation at triosephosphate isomerase (TPI) position 145 in a Hungarian family for which the first mutation (240 Phe→Leu) was published earlier. The entire genomic TPI locus (exons, introns and promoter) was sequenced and found to be identical in the two compound-heterozygote brothers. Both brothers have the same well-compensated level of non-spherocytic hemolytic anemia and very high levels of the TPI substrate dihydroxyacetonephosphate (DHAP), but only one brother manifests neurologic disorders. Differences in nonsense-mediated mRNA decay may be at the basis of the differences in phenotype expression although it cannot be excluded the interaction with a modifier gene. Based on our earlier results, the development of neurodegeneration may be decisively modulated by the cellular environment of the mutant proteins initiating the process of focal apoptosis of neurons in glycolytic, peroxisomal and prion-induced neurological diseases. (C) 2000 Academie des sciences/Editions scientifiques et medicales Elsevier SAS.

Original languageFrench
Pages (from-to)245-250
Number of pages6
JournalComptes Rendus de l'Academie des Sciences - Serie III
Volume323
Issue number3
DOIs
Publication statusPublished - márc. 2000

Fingerprint

Triose-Phosphate Isomerase
Germ-Line Mutation
phenotype
mutation
allele
Alleles
Phenotype
anemia
apoptosis
Nonsense Mediated mRNA Decay
Modifier Genes
genomics
Mutation
Prions
Hemolytic Anemia
Mutant Proteins
Heterozygote
Nervous System Diseases
substrate
Introns

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Ecology

Cite this

Deux phenotypes distincts pour un meme genotype chez deux freres ayant un deficit complet en triose phosphate isomerase. / Valentin, Colette; Cohen-Solal, Michel; Maquat, Lynne; Horányi, M.; Inselt-Kovács, Marianne; Hollán, S.

In: Comptes Rendus de l'Academie des Sciences - Serie III, Vol. 323, No. 3, 03.2000, p. 245-250.

Research output: Article

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