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• W85118823 abstract "Els resultats que es recullen a la memoria tracten sobre 4 malalties humanes i la seva associacio amb alteracions al DNA mitocondrial (mtDNA). Les malalties son: atrofia optica de Leber (LHON), ambliopia alcohol-tabac (TAA), sindrome de Wolfram (WS) i lipodistrofia associada a terapia antiretroviral (LD).Shan estudiat 31 persones amb atrofia optica i 18 familiars de les mateixes. En els pacients sha detectat una proporcio de mutacions al mtDNA tipus LHON primaries del 29%, a diferencia daltres estudis mundials als quals ~90% de les persones diagnosticades amb LHON tenen alguna mutacio primaria. Podrien existir altres mutacions (mitocondrials o nuclears) responsables de latrofia optica patida per aquests afectes. Tambe sha observat recuperacio visual espontania en una persona amb la mutacio primaria 14484C; i la penetracio incompleta en familiars de malalts que son homoplasmics per a la mateixa mutacio que el pacient, i no pateixen latrofia optica.Quant a la TAA, vam estudiar si latrofia optica en un grup de malalts estava causada pel consum dalcohol i/o tabac elevat, per un estat nutricional deficient, o per la presencia de mutacions al mtDNA. Els pacients ambliopics es van comparar amb dos grups control: persones alcoholiques sense alteracions visuals, i persones no alcoholiques. Els pacients amb ambliopia estaven en un estat nutricional comparable al del grup control alcoholic. El percentatge de pacients ambliopics amb una mutacio primaria LHON o >1 secundaria era clarament superior al mateix percentatge en els dos grups control. La predisposicio genetica deguda a la presencia de les mutacions mitocondrials LHON juntament amb un consum elevat dalcohol poden ser els responsables de latrofia optica patida per molts daquests casos ambliopics.En 22 pacients amb la WS vam detectar 11 mutacions al gen nuclearWFS1. Una daquestes mutacions (425ins16, exo 4) es va identificar al 41% dels pacients i al 50% de les families amb mutacions a aquest gen. En 4 i 6 families es van identificar delecions multiples i mutacions puntuals tipus LHON al mtDNA, respectivament. Pensem que no shan detectat mes delecions al mtDNA perque no sha disposat de mostres de teixits afectats per la sindrome (pancrees, cervell). Unicament shan estudiat sangs, teixit no alterat en aquesta malaltia.Quant a la LD, hem estudiat individus amb LD, un grup de persones tambe HIV-positives sense LD, i un segon grup control format de persones no infectades pel virus. Existeixen alteracions mitocondrials a tots els pacients amb LD, les quals no shan detectat als controls. Les alteracions mitocondrials son consequencia de laplicacio de terapies antiretrovirals altament actives, pero no podem establir encara si les alteracions bioquimiques i genetiques en els mitocondris dels pacients son un pas previ i necessari en el desenvolupament de la LD.This thesis contains results about 4 different human diseases and their association to mitochondrial DNA (mtDNA) abnormalities. The diseases studied are: Leber's hereditary optic atrophy (LHON), tobacco-alcohol amblyopia (TAA), Wolfram syndrome (WS) and antiretroviral therapy-related lipodystrophy (LD).Thirty-one individuals suffering optic atrophy and 18 relatives were studied. The proportion of primary LHON mutations among patients was 29%, in contrast to previous data on European and worldwide patients which showed that almost 90% of individuals diagnosed with LHON harboured a primary LHON mutation. Some other mutations (either in the nuclear or the mitochondrial genes) must account for the optic atrophy experienced by these patients.We also studied if the optic atrophy in a group of individuals with TAA was caused by a poor nutritional status, the abuse in toxic substances, or the presence of LHON mutations in the mtDNA. We found that the percentage of patients with TAA that had one primary mutation or more than one secondary mutation was significantly higher than such a percentage in two control groups: one group of alcoholic individuals not suffering visual abnormalities, and a second group of healthy non-alcoholic individuals. The genetic predisposition (due to the presence of mtDNA mutations) together with environmental factors (i.e., the abuse of alcohol and/or tobacco) can be the cause of the optic atrophy in these alcoholic patients.Eleven mutations in the nuclear gene WFS1 were detected in 22 WS patients. One 16-base pair insertion in exon 4 was identified in 41% of patients. This mutation has not been detected in other European WS patients. Six families had point mtDNA mutations (LHON mutations), but only four had mtDNA deletions in blood samples. WS typical symptoms strongly suggest a mitochondrial disorder, and we cannot discard such a hypothesis since the only available material for the study was blood, which is not an affected tissue in this syndrome. We believe that affected areas in WS patients (brain, pancreas) probably present high proportions of deleted mtDNA.Biochemical, genetic or structural abnormalities have been found in muscle mitochondria from seven HIV-positive individuals with LD who were under highly active antiretroviral therapies. These abnormalities were not detected in other HIV-positive individuals without LD, or in non-infected individuals. It remains to be determined if the mitochondrial disturbances are needed for the development of LD or whether both phenomena are separate consequences of highly active antiretroviral therapies." @default.
• W85118823 created "2016-06-24" @default.
• W85118823 creator A5065734554 @default.
• W85118823 date "2001-11-12" @default.
• W85118823 modified "2023-09-23" @default.
• W85118823 title "Implicació del genoma mitocondrial en malalties humanes diverses" @default.
• W85118823 hasPublicationYear "2001" @default.
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