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Linkage analysis studies have indicated that the chromosome band 14q24.3 harbours a major gene for familial early-onset Alzheimer's disease (AD). Recently we localized the chromosome 14 AD gene (AD3) in the 6.4 cM interval between the markers D14S289 and D14S61. We mapped the gene encoding dihydrolipoyl succinyltransferase (DLST), the E2k component of human alpha-ketoglutarate dehydrogenase complex (KGDHC), in the AD3 candidate region using yeast artificial chromosomes (YACs). The DLST gene is a candidate for the AD3 gene since deficiencies in KGDHC activity have been observed in brain tissue and fibroblasts of AD patients. The 15 exons and the promoter region of the DLST gene were analysed for mutations in chromosome 14 linked AD cases and in two series of unrelated early-onset AD cases (onset age < 55 years). Sequence variations in intronic sequences (introns 3, 5 and 10) or silent mutations in exonic sequences (exons 8 and 14) were identified. However, no AD related mutations were observed, suggesting that the DLST gene is not the chromosome 14 AD3 gene.

Original publication

DOI

10.1016/0304-3940(95)11982-3

Type

Journal article

Journal

Neuroscience letters

Publication Date

10/1995

Volume

199

Pages

73 - 77

Addresses

Born-Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium.

Keywords

Chromosomes, Human, Pair 14, Humans, Alzheimer Disease, Acyltransferases, Chromosome Mapping, Polymerase Chain Reaction, Base Sequence, Mutation, Polymorphism, Single-Stranded Conformational, Introns, Exons, Molecular Sequence Data, Middle Aged, Promoter Regions, Genetic, Genetic Linkage