title: [Digestive system disease as manifestation of the pleiotropic action of genes in mitochondrial dysfunction].
abstract: Defined involvement lesions of the digestive system of clinical manifestations of mitochondrial dysfunction associated with both point mutations and polymorphism of mitochondrial DNA. The nature of the clinical signs of mtDNA polymorphisms carriers--multi organical, a progressive, clinical polymorphism, genetic heterogeneity with predominant involvement of energotropic bodies (cerebrum, cordis, hepatic). Set individual nosological forms of mitochondrial dysfunctions--syndromes Leia, Leber, Cairns, Sarah, MERRF, MELAS, NARP, MNGIE confirmed by clinical and genetic, morphological, biochemical, enzymatic, molecular genetics methods. It was found that 84-88% of these syndromes involving the violation of the digestive system with varying degrees of injury. This damage will be the first in the complex chain signs recovery which determines the direction of early rehabilitation.
authors.forename: O Ia
authors.initials: OIa
authors.lastname: Hrechanina
authors.forename: Iu B
authors.initials: IuB
authors.lastname: Hrechanina
authors.forename: V A
authors.initials: VA
authors.lastname: Husar
authors.forename: L V
authors.initials: LV
authors.lastname: Molodan
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005767:Gastrointestinal Diseases / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D058685:Genetic Pleiotropy; D054629:Genome, Mitochondrial; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D007888:Leigh Disease / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D017241:MELAS Syndrome / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D017243:MERRF Syndrome / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D008297:Male; D008928:Mitochondria / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D017237:Mitochondrial Encephalomyopathies / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D017240:Mitochondrial Myopathies / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D039141:Muscular Dystrophy, Oculopharyngeal; D009886:Ophthalmoplegia / Q000151:congenital; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012174:Retinitis Pigmentosa / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D028361:Mitochondrial Diseases
chemical_list: D004272:DNA, Mitochondrial