Recent developments in the molecular genetics of mitochondrial disorders
Identifieur interne : 001E25 ( Main/Exploration ); précédent : 001E24; suivant : 001E26Recent developments in the molecular genetics of mitochondrial disorders
Auteurs : Manuel B. Graeber [Allemagne] ; Ulrich Müller [Allemagne]Source :
- Journal of the Neurological Sciences [ 0022-510X ] ; 1998.
Abstract
Rapid progress has beenmade in the identification of mitochondrial DNA mutations which are typically associated with diseases of the nervous system and muscle. The well established mitochondrial disorders are maternally inherited and males and females are equally affected. An exception is Leber's hereditary optic atrophy (LHON) which is observed much more frequently in males than in females. There are three common point mutations in LHON wich can be homoplasmic or heteroplasmic. In mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) most mutations are single base changes and lie within the tRNA-Leu gene. Point mutations in myoclonic epilepsy with ragged red fibres (MERRF) usually occur within the tRNA-Lys gene but mutations of the tRNA-Leu gene are also observed. MELAS and MERRF mutations are heteroplasmic and there is considerable clinical overlap between these diseases. Point mutations within the ATPase6 gene result in either neuropathy, ataxia and retinitis pigmentosa (NARP) or in Leigh's syndrome. The latter occurs if the mutation is present in the majority of mitochondria (extreme heteroplasmy). Finally, mitochondrial DNA deletions are the cause underlying Kearns-Sayre syndrome (KSS). Apart from the well-established mitochondrial diseases, there is increasing evidence that mitochondrial mutations may also play a role in the neurodegenerative disorders Parkinson, Alzheimer and Huntington disease. The complex I defect found in Parkinson disease is especially interesting in this respect. However, no causative mitochondrial mutation has as yet been established in any of these three common disorders.
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DOI: 10.1016/S0022-510X(97)00295-5
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Graeber</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Molecular Neuropathology Laboratory, Department of Neuromorphology, Max-Planck-Institute of Psychiatry, Am Klopferspitz 18a, 82152 Martinsried</wicri:regionArea><wicri:noRegion>82152 Martinsried</wicri:noRegion><wicri:noRegion>82152 Martinsried</wicri:noRegion></affiliation></author><author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Giessen, Schlangenzahl 14, 35392 Giessen</wicri:regionArea><wicri:noRegion>35392 Giessen</wicri:noRegion><wicri:noRegion>35392 Giessen</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of the Neurological Sciences</title><title level="j" type="abbrev">JNS</title><idno type="ISSN">0022-510X</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1998">1998</date><biblScope unit="volume">153</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="251">251</biblScope><biblScope unit="page" to="263">263</biblScope></imprint><idno type="ISSN">0022-510X</idno></series><idno type="istex">521CC351A13C8D1B0C3CC8E8785979FCAA59A336</idno><idno type="DOI">10.1016/S0022-510X(97)00295-5</idno><idno type="PII">S0022-510X(97)00295-5</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-510X</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Rapid progress has beenmade in the identification of mitochondrial DNA mutations which are typically associated with diseases of the nervous system and muscle. The well established mitochondrial disorders are maternally inherited and males and females are equally affected. An exception is Leber's hereditary optic atrophy (LHON) which is observed much more frequently in males than in females. There are three common point mutations in LHON wich can be homoplasmic or heteroplasmic. In mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) most mutations are single base changes and lie within the tRNA-Leu gene. Point mutations in myoclonic epilepsy with ragged red fibres (MERRF) usually occur within the tRNA-Lys gene but mutations of the tRNA-Leu gene are also observed. MELAS and MERRF mutations are heteroplasmic and there is considerable clinical overlap between these diseases. Point mutations within the ATPase6 gene result in either neuropathy, ataxia and retinitis pigmentosa (NARP) or in Leigh's syndrome. The latter occurs if the mutation is present in the majority of mitochondria (extreme heteroplasmy). Finally, mitochondrial DNA deletions are the cause underlying Kearns-Sayre syndrome (KSS). Apart from the well-established mitochondrial diseases, there is increasing evidence that mitochondrial mutations may also play a role in the neurodegenerative disorders Parkinson, Alzheimer and Huntington disease. The complex I defect found in Parkinson disease is especially interesting in this respect. However, no causative mitochondrial mutation has as yet been established in any of these three common disorders.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country></list><tree><country name="Allemagne"><noRegion><name sortKey="Graeber, Manuel B" sort="Graeber, Manuel B" uniqKey="Graeber M" first="Manuel B" last="Graeber">Manuel B. Graeber</name></noRegion><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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