Camptocormia as a Novel Phenotype in a Heterozygous <i>POLG2</i> Mutation
Mitochondrial dysfunction is known to play a key role in the pathophysiological pathway of neurodegenerative disorders. Nuclear-encoded proteins are involved in mtDNA replication, including DNA polymerase gamma, which is the only known replicative mtDNA polymerase, encoded by nuclear genes Polymeras...
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| Format: | Article |
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MDPI AG
2020-01-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/10/2/68 |
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| author | Diana Lehmann Urban Leila Motlagh Scholle Kerstin Alt Albert C. Ludolph Angela Rosenbohm |
| author_facet | Diana Lehmann Urban Leila Motlagh Scholle Kerstin Alt Albert C. Ludolph Angela Rosenbohm |
| author_sort | Diana Lehmann Urban |
| collection | DOAJ |
| description | Mitochondrial dysfunction is known to play a key role in the pathophysiological pathway of neurodegenerative disorders. Nuclear-encoded proteins are involved in mtDNA replication, including DNA polymerase gamma, which is the only known replicative mtDNA polymerase, encoded by nuclear genes Polymerase gamma 1 (<i>POLG</i>) and Polymerase gamma 2 (<i>POLG2</i>). <i>POLG</i> mutations are well-known as a frequent cause of mitochondrial myopathies of nuclear origin. However, only rare descriptions of <i>POLG2</i> mutations leading to mitochondriopathies exist. Here we describe a 68-year-old woman presenting with a 20-year history of camptocormia, mild proximal weakness, and moderate CK increase. Muscle histology showed COX-negative fibres. Genetic analysis by next generation sequencing revealed an already reported heterozygous c.1192-8_1207dup24 mutation in the <i>POLG2</i> gene. This is the first report on a <i>POLG2</i> mutation leading to camptocormia as the main clinical phenotype, extending the phenotypic spectrum of <i>POLG2</i> associated diseases. This underlines the broad phenotypic spectrum found in mitochondrial diseases, especially in mitochondrial disorders of nuclear origin. |
| first_indexed | 2024-04-11T22:20:06Z |
| format | Article |
| id | doaj.art-64eef66ffc0746a69e2c53126ac8b5d1 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-04-11T22:20:06Z |
| publishDate | 2020-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-64eef66ffc0746a69e2c53126ac8b5d12022-12-22T04:00:10ZengMDPI AGDiagnostics2075-44182020-01-011026810.3390/diagnostics10020068diagnostics10020068Camptocormia as a Novel Phenotype in a Heterozygous <i>POLG2</i> MutationDiana Lehmann Urban0Leila Motlagh Scholle1Kerstin Alt2Albert C. Ludolph3Angela Rosenbohm4Department of Neurology, Ulm University, 89081 Ulm, GermanyDepartment of Neurology, University of Halle/S., 06120 Halle, GermanyGenetikum, 89231 Neu-Ulm, GermanyDepartment of Neurology, Ulm University, 89081 Ulm, GermanyDepartment of Neurology, Ulm University, 89081 Ulm, GermanyMitochondrial dysfunction is known to play a key role in the pathophysiological pathway of neurodegenerative disorders. Nuclear-encoded proteins are involved in mtDNA replication, including DNA polymerase gamma, which is the only known replicative mtDNA polymerase, encoded by nuclear genes Polymerase gamma 1 (<i>POLG</i>) and Polymerase gamma 2 (<i>POLG2</i>). <i>POLG</i> mutations are well-known as a frequent cause of mitochondrial myopathies of nuclear origin. However, only rare descriptions of <i>POLG2</i> mutations leading to mitochondriopathies exist. Here we describe a 68-year-old woman presenting with a 20-year history of camptocormia, mild proximal weakness, and moderate CK increase. Muscle histology showed COX-negative fibres. Genetic analysis by next generation sequencing revealed an already reported heterozygous c.1192-8_1207dup24 mutation in the <i>POLG2</i> gene. This is the first report on a <i>POLG2</i> mutation leading to camptocormia as the main clinical phenotype, extending the phenotypic spectrum of <i>POLG2</i> associated diseases. This underlines the broad phenotypic spectrum found in mitochondrial diseases, especially in mitochondrial disorders of nuclear origin.https://www.mdpi.com/2075-4418/10/2/68mitochondrial myopathypolymerase gamma 2 (polg2)camptocormiamutations of nuclear origin |
| spellingShingle | Diana Lehmann Urban Leila Motlagh Scholle Kerstin Alt Albert C. Ludolph Angela Rosenbohm Camptocormia as a Novel Phenotype in a Heterozygous <i>POLG2</i> Mutation Diagnostics mitochondrial myopathy polymerase gamma 2 (polg2) camptocormia mutations of nuclear origin |
| title | Camptocormia as a Novel Phenotype in a Heterozygous <i>POLG2</i> Mutation |
| title_full | Camptocormia as a Novel Phenotype in a Heterozygous <i>POLG2</i> Mutation |
| title_fullStr | Camptocormia as a Novel Phenotype in a Heterozygous <i>POLG2</i> Mutation |
| title_full_unstemmed | Camptocormia as a Novel Phenotype in a Heterozygous <i>POLG2</i> Mutation |
| title_short | Camptocormia as a Novel Phenotype in a Heterozygous <i>POLG2</i> Mutation |
| title_sort | camptocormia as a novel phenotype in a heterozygous i polg2 i mutation |
| topic | mitochondrial myopathy polymerase gamma 2 (polg2) camptocormia mutations of nuclear origin |
| url | https://www.mdpi.com/2075-4418/10/2/68 |
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