Mitochondrial disease in adults: recent advances and future promise
| Autor: | Robert McFarland, Cornelia Kornblum, David R. Thorburn, Anu Suomalainen, Laurence A. Bindoff, Michelangelo Mancuso, Grainne S. Gorman, Thomas Klopstock, Y.S. Ng, Robert W. Taylor, Douglass M. Turnbull, Carolyn M. Sue |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
methods [High-Throughput Nucleotide Sequencing] Mitochondrial Diseases genetics [Mitochondrial Diseases] Mitochondrial disease Symptomatic treatment therapy [Mitochondrial Diseases] genetics [Mutation] Reproductive technology Bioinformatics DNA Mitochondrial 03 medical and health sciences 0302 clinical medicine methods [Genetic Therapy] physiopathology [Mitochondrial Diseases] medicine Humans ddc:610 trends [Genetic Therapy] Repurposing Transmission (medicine) business.industry High-Throughput Nucleotide Sequencing Genetic Therapy medicine.disease genetics [DNA Mitochondrial] 3. Good health Natural history 030104 developmental biology Current management Mutation Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | The lancet |
| ISSN: | 1474-4422 |
| DOI: | 10.1016/s1474-4422(21)00098-3 |
| Popis: | Mitochondrial diseases are some of the most common inherited neurometabolic disorders, and major progress has been made in our understanding, diagnosis, and treatment of these conditions in the past 5 years. Development of national mitochondrial disease cohorts and international collaborations has changed our knowledge of the spectrum of clinical phenotypes and natural history of mitochondrial diseases. Advances in high-throughput sequencing technologies have altered the diagnostic algorithm for mitochondrial diseases by increasingly using a genetics-first approach, with more than 350 disease-causing genes identified to date. While the current management strategy for mitochondrial disease focuses on surveillance for multisystem involvement and effective symptomatic treatment, new endeavours are underway to find better treatments, including repurposing current drugs, use of novel small molecules, and gene therapies. Developments made in reproductive technology offer women the opportunity to prevent transmission of DNA-related mitochondrial disease to their children. |
| Databáze: | OpenAIRE |
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