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[Mitochondrial diseases in adults]
J Serratrice1, C Desnuelle, B Granel
1Service de médecine interne, CHU Timone, 264, rue Saint-Pierre, 13385 Marseille, France.
Purpose:
Mitochondrial diseases have numerous phenotypic expression, and form an heterogeneous group of genetic diseases in which the production of energy fails. Well known in childhood, these mitochondrial diseases can onset in adulthood and may remain unrecognized. We propose a recent review (Medline 1981-2001) of the literature on adult forms of mitochondriopathies, illustrated with a typical case report.
Current Knowledge And Key Points:
Mitochondrial diseases have numerous phenotypic expression in adulthood. Principles of diagnosis are i) recognize a phenotype, ii) prove the mitochondrial abnormalities, iii) realize a genetical analysis. Main varieties of adult phenotypes are studied and separated in 1) skeletal muscular involvement, ocular myopathies above all; 2) mitochondrial cardiomyopathies; 3) neurological involvement (MERRF, MELAS, NARP, MNGIE syndromes); 4) endocrinological involvement and diabetes mellitus; 5) multisystemic diseases with a particular focus on Kearns Sayre syndrome.
Future Prospects And Projects:
Phenotypic analysis of a patient with mitochondrial disease is not simple. A "multi-tissues" involvement is the main characteristic feature. Faced with such patients, replacement therapy, genomic therapy and genetic advice are evoked.
Insights
Mitochondrial diseases, often diagnosed in childhood, can manifest in adults with diverse symptoms. This review highlights adult mitochondrial disease phenotypes and diagnostic approaches.
Area of Science:
- Genetics
- Molecular Biology
- Neurology
Context:
- Mitochondrial diseases are a heterogeneous group of genetic disorders affecting energy production.
- While often recognized in childhood, adult-onset mitochondrial diseases can be challenging to diagnose.
- This review synthesizes literature from 1981-2001 on adult mitochondriopathies.
Purpose:
- To review the literature on adult-onset mitochondrial diseases.
- To describe the diverse phenotypic expressions of adult mitochondriopathies.
- To illustrate diagnostic principles with a case report.
Summary:
- Adult mitochondrial diseases present with varied phenotypes, including skeletal muscle, cardiac, neurological, and endocrinological involvement.
- Diagnostic principles involve phenotype recognition, confirmation of mitochondrial abnormalities, and genetic analysis.
- Key adult phenotypes include myopathies, cardiomyopathies, neurological syndromes (MERRF, MELAS, NARP, MNGIE), and multisystemic disorders like Kearns Sayre syndrome.
Impact:
- Highlights the complexity of diagnosing adult mitochondrial diseases.
- Emphasizes the multi-tissue involvement characteristic of these conditions.
- Discusses potential future therapeutic strategies including replacement and genomic therapy, and genetic counseling.