Author, as appears in the article.: Barrientos A; Volpini V; Casademont J; Genís D; Manzanares J; Ferrer I; Corral J; Cardellach F; Urbano-Márquez A; Estivill X; Nunes V
Department: REVISAR - Medicina i Cirurgia
URV's Author/s: Manzanares Errazu, José María
Keywords: Wolfram syndrome Succinate cytochrome c oxidoreductase Sequence deletion Priority journal Pedigree Oxphos Optic atrophy Neurodegenerative disease Nadh dehydrogenase Molecular sequence data Mitochondrial dna Microsatellite repeats Male Linkage (genetics) Linkage Humans Human Genotype Genome Genetic linkage Genes, recessive Gene deletion Gene Female Electron transport complex iv Dna, mitochondrial Dna determination Disease Didmoad syndrome Didmoad Diabetes-mellitus Degenerative disease Cytochrome-c oxidase deficiency Clinical article Chromosomes, human, pair 4 Chromosome mapping Chromosome aberration Chromosome 4p Cell nucleus Brain Base sequence Autosomal recessive inheritance Article Adult
Abstract: Wolfram syndrome is a progressive neurodegenerative disorder transmitted in an autosomal recessive mode. We report two Wolfram syndrome families harboring multiple deletions of mitochondrial DNA. The deletions reached percentages as high as 85-90% in affected tissues such as the central nervous system of one patient, while in other tissues from the same patient and from other members of the family, the percentages of deleted mitochondrial DNA genomes were only 1-10%. Recently, a Wolfram syndrome gene has been linked to markers on 4p16. In both families linkage between the disease locus and 4p16 markers gave a maximum multipoint lod score of 3.79 at theta = 0 (P<0.03) with respect to D4S431. In these families, the syndrome was caused by mutations in this nucleus-encoded gene which deleteriously interacts with the mitochondrial genome. This is the first evidence of the implication of both genomes in a recessive disease.
Thematic Areas: Saúde coletiva Odontología Medicine, research & experimental Medicine (miscellaneous) Medicine (all) Medicina veterinaria Medicina ii Medicina i Interdisciplinar General medicine Farmacia Educação física Ciências biológicas iii Ciências biológicas ii Ciências biológicas i Biotecnología
ISSN: 00219738
Author's mail: josemaria.manzanares@urv.cat josemaria.manzanares@urv.cat
Record's date: 2023-04-29
Papper original source: Journal Of Clinical Investigation. 97 (7): 1570-1576
APA: Barrientos A; Volpini V; Casademont J; Genís D; Manzanares J; Ferrer I; Corral J; Cardellach F; Urbano-Márquez A; Estivill X; Nunes V (1996). A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. Journal Of Clinical Investigation, 97(7), 1570-1576. DOI: 10.1172/jci118581
Licence document URL: https://repositori.urv.cat/ca/proteccio-de-dades/
Article's DOI: 10.1172/JCI118581
Entity: Universitat Rovira i Virgili
Journal publication year: 1996
Publication Type: Journal Publications
Repositori URV