Articles producció científica> Medicina i Cirurgia

A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome

  • Dades identificatives

    Identificador: imarina:2602604
    Autors:
    Barrientos AVolpini VCasademont JGenís DManzanares JFerrer ICorral JCardellach FUrbano-Márquez AEstivill XNunes V
    Resum:
    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.
  • Altres:

    Autor segons l'article: Barrientos A; Volpini V; Casademont J; Genís D; Manzanares J; Ferrer I; Corral J; Cardellach F; Urbano-Márquez A; Estivill X; Nunes V
    Departament: REVISAR - Medicina i Cirurgia
    Autor/s de la URV: Manzanares Errazu, José María
    Paraules clau: 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
    Resum: 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.
    Àrees temàtiques: 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
    Adreça de correu electrònic de l'autor: josemaria.manzanares@urv.cat josemaria.manzanares@urv.cat
    Data d'alta del registre: 2023-04-29
    Referència a l'article segons font original: Journal Of Clinical Investigation. 97 (7): 1570-1576
    Referència de l'ítem segons les normes 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
    URL Document de llicència: https://repositori.urv.cat/ca/proteccio-de-dades/
    DOI de l'article: 10.1172/JCI118581
    Entitat: Universitat Rovira i Virgili
    Any de publicació de la revista: 1996
    Tipus de publicació: Journal Publications
  • Paraules clau:

    Medicine (Miscellaneous),Medicine, Research & Experimental
    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
    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
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