Molecular Genetics Overview of Primary Mitochondrial Myopathies
Mitochondrial disorders are the most common inherited conditions, characterized by defects in oxidative phosphorylation and caused by mutations in nuclear or mitochondrial genes. Due to its high energy request, skeletal muscle is typically involved. According to the International Workshop of Experts...
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| Format: | Article |
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MDPI AG
2022-01-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/11/3/632 |
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| author | Ignazio Giuseppe Arena Alessia Pugliese Sara Volta Antonio Toscano Olimpia Musumeci |
| author_facet | Ignazio Giuseppe Arena Alessia Pugliese Sara Volta Antonio Toscano Olimpia Musumeci |
| author_sort | Ignazio Giuseppe Arena |
| collection | DOAJ |
| description | Mitochondrial disorders are the most common inherited conditions, characterized by defects in oxidative phosphorylation and caused by mutations in nuclear or mitochondrial genes. Due to its high energy request, skeletal muscle is typically involved. According to the International Workshop of Experts in Mitochondrial Diseases held in Rome in 2016, the term Primary Mitochondrial Myopathy (PMM) should refer to those mitochondrial disorders affecting principally, but not exclusively, the skeletal muscle. The clinical presentation may include general isolated myopathy with muscle weakness, exercise intolerance, chronic ophthalmoplegia/ophthalmoparesis (cPEO) and eyelids ptosis, or multisystem conditions where there is a coexistence with extramuscular signs and symptoms. In recent years, new therapeutic targets have been identified leading to the launch of some promising clinical trials that have mainly focused on treating muscle symptoms and that require populations with defined genotype. Advantages in next-generation sequencing techniques have substantially improved diagnosis. So far, an increasing number of mutations have been identified as responsible for mitochondrial disorders. In this review, we focused on the principal molecular genetic alterations in PMM. Accordingly, we carried out a comprehensive review of the literature and briefly discussed the possible approaches which could guide the clinician to a genetic diagnosis. |
| first_indexed | 2024-03-09T23:40:52Z |
| format | Article |
| id | doaj.art-5f3cd60286fc4f8ab1b037bd459b6946 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-09T23:40:52Z |
| publishDate | 2022-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-5f3cd60286fc4f8ab1b037bd459b69462023-11-23T16:51:35ZengMDPI AGJournal of Clinical Medicine2077-03832022-01-0111363210.3390/jcm11030632Molecular Genetics Overview of Primary Mitochondrial MyopathiesIgnazio Giuseppe Arena0Alessia Pugliese1Sara Volta2Antonio Toscano3Olimpia Musumeci4Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, ItalyUnit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, ItalyDepartment of Neurosciences, University of Padova, 35100 Padova, ItalyUnit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, ItalyUnit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, ItalyMitochondrial disorders are the most common inherited conditions, characterized by defects in oxidative phosphorylation and caused by mutations in nuclear or mitochondrial genes. Due to its high energy request, skeletal muscle is typically involved. According to the International Workshop of Experts in Mitochondrial Diseases held in Rome in 2016, the term Primary Mitochondrial Myopathy (PMM) should refer to those mitochondrial disorders affecting principally, but not exclusively, the skeletal muscle. The clinical presentation may include general isolated myopathy with muscle weakness, exercise intolerance, chronic ophthalmoplegia/ophthalmoparesis (cPEO) and eyelids ptosis, or multisystem conditions where there is a coexistence with extramuscular signs and symptoms. In recent years, new therapeutic targets have been identified leading to the launch of some promising clinical trials that have mainly focused on treating muscle symptoms and that require populations with defined genotype. Advantages in next-generation sequencing techniques have substantially improved diagnosis. So far, an increasing number of mutations have been identified as responsible for mitochondrial disorders. In this review, we focused on the principal molecular genetic alterations in PMM. Accordingly, we carried out a comprehensive review of the literature and briefly discussed the possible approaches which could guide the clinician to a genetic diagnosis.https://www.mdpi.com/2077-0383/11/3/632mitochondrial myopathyexercise intoleranceophtalmoplegiamtDNAnDNAoxidative phosphorylation |
| spellingShingle | Ignazio Giuseppe Arena Alessia Pugliese Sara Volta Antonio Toscano Olimpia Musumeci Molecular Genetics Overview of Primary Mitochondrial Myopathies Journal of Clinical Medicine mitochondrial myopathy exercise intolerance ophtalmoplegia mtDNA nDNA oxidative phosphorylation |
| title | Molecular Genetics Overview of Primary Mitochondrial Myopathies |
| title_full | Molecular Genetics Overview of Primary Mitochondrial Myopathies |
| title_fullStr | Molecular Genetics Overview of Primary Mitochondrial Myopathies |
| title_full_unstemmed | Molecular Genetics Overview of Primary Mitochondrial Myopathies |
| title_short | Molecular Genetics Overview of Primary Mitochondrial Myopathies |
| title_sort | molecular genetics overview of primary mitochondrial myopathies |
| topic | mitochondrial myopathy exercise intolerance ophtalmoplegia mtDNA nDNA oxidative phosphorylation |
| url | https://www.mdpi.com/2077-0383/11/3/632 |
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