Case report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndrome
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and progressive external ophthalmoplegia (PEO) are established phenotypes of mitochondrial disorders. They are maternally-inherited, multisystem disorder that is characterized by variable clinical, biochemical, and imagi...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-08-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2022.927823/full |
| _version_ | 1811339274121904128 |
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| author | Qiu Yan Zhao Wen Zhao Zhang Xue Lian Zhu Fei Qiao Li Yuan Jia Bi Li Yong Xiao Han Chen Yu Zhang Yun Guo Chen Yong Liang Wang |
| author_facet | Qiu Yan Zhao Wen Zhao Zhang Xue Lian Zhu Fei Qiao Li Yuan Jia Bi Li Yong Xiao Han Chen Yu Zhang Yun Guo Chen Yong Liang Wang |
| author_sort | Qiu Yan Zhao |
| collection | DOAJ |
| description | Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and progressive external ophthalmoplegia (PEO) are established phenotypes of mitochondrial disorders. They are maternally-inherited, multisystem disorder that is characterized by variable clinical, biochemical, and imaging features. We described the clinical and genetic features of a Chinese patient with late-onset MELAS/PEO overlap syndrome, which has rarely been reported. The patient was a 48-year-old woman who presented with recurrent ischemic strokes associated with characteristic brain imaging and bilateral ptosis. We assessed her clinical characteristics and performed mutation analyses. The main manifestations of the patient were stroke-like episodes and seizures. A laboratory examination revealed an increased level of plasma lactic acid and a brain MRI showed multiple lesions in the cortex. A muscle biopsy demonstrated ragged red fibers. Genetic analysis from a muscle sample identified two mutations: TL1 m.3243A>G and POLG c.3560C>T, with mutation loads of 83 and 43%, respectively. This suggested that mitochondrial disorders are associated with various clinical presentations and an overlap between the syndromes and whole exome sequencing is important, as patients may carry multiple mutations. |
| first_indexed | 2024-04-13T18:23:56Z |
| format | Article |
| id | doaj.art-d566ca49444f428eb09231282f1d80bc |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-04-13T18:23:56Z |
| publishDate | 2022-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-d566ca49444f428eb09231282f1d80bc2022-12-22T02:35:20ZengFrontiers Media S.A.Frontiers in Neurology1664-22952022-08-011310.3389/fneur.2022.927823927823Case report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndromeQiu Yan Zhao0Wen Zhao Zhang1Xue Lian Zhu2Fei Qiao3Li Yuan Jia4Bi Li5Yong Xiao6Han Chen7Yu Zhang8Yun Guo Chen9Yong Liang Wang10Department of Neurology, The Fourth Division Hospital of Xinjiang Production and Construction Corps, Yining, ChinaDepartment of Clinical Laboratory, Zhenjiang Hospital of Chinese Traditional and Western Medicine, Zhenjiang, ChinaDepartment of Neurology, The Fourth Division Hospital of Xinjiang Production and Construction Corps, Yining, ChinaDepartment of Neurology, The Fourth Division Hospital of Xinjiang Production and Construction Corps, Yining, ChinaDepartment of Neurology, The Fourth Division Hospital of Xinjiang Production and Construction Corps, Yining, ChinaDepartment of Neurology, The Fourth Division Hospital of Xinjiang Production and Construction Corps, Yining, ChinaDepartment of Orthopedics, The Fourth Division Hospital of Xinjiang Production and Construction Corps, Yining, ChinaDepartment of Medical Imaging, The Fourth Division Hospital of Xinjiang Production and Construction Corps, Yining, ChinaDepartment of Neurology, The Fourth Division Hospital of Xinjiang Production and Construction Corps, Yining, ChinaDepartment of Cardiovascular, The Fourth Division Hospital of Xinjiang Production and Construction Corps, Yining, ChinaDepartment of Interventional, The Fourth Division Hospital of Xinjiang Production and Construction Corps, Yining, ChinaMitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and progressive external ophthalmoplegia (PEO) are established phenotypes of mitochondrial disorders. They are maternally-inherited, multisystem disorder that is characterized by variable clinical, biochemical, and imaging features. We described the clinical and genetic features of a Chinese patient with late-onset MELAS/PEO overlap syndrome, which has rarely been reported. The patient was a 48-year-old woman who presented with recurrent ischemic strokes associated with characteristic brain imaging and bilateral ptosis. We assessed her clinical characteristics and performed mutation analyses. The main manifestations of the patient were stroke-like episodes and seizures. A laboratory examination revealed an increased level of plasma lactic acid and a brain MRI showed multiple lesions in the cortex. A muscle biopsy demonstrated ragged red fibers. Genetic analysis from a muscle sample identified two mutations: TL1 m.3243A>G and POLG c.3560C>T, with mutation loads of 83 and 43%, respectively. This suggested that mitochondrial disorders are associated with various clinical presentations and an overlap between the syndromes and whole exome sequencing is important, as patients may carry multiple mutations.https://www.frontiersin.org/articles/10.3389/fneur.2022.927823/fullMELASPEOmutationChinesegene |
| spellingShingle | Qiu Yan Zhao Wen Zhao Zhang Xue Lian Zhu Fei Qiao Li Yuan Jia Bi Li Yong Xiao Han Chen Yu Zhang Yun Guo Chen Yong Liang Wang Case report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndrome Frontiers in Neurology MELAS PEO mutation Chinese gene |
| title | Case report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndrome |
| title_full | Case report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndrome |
| title_fullStr | Case report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndrome |
| title_full_unstemmed | Case report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndrome |
| title_short | Case report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndrome |
| title_sort | case report a double pathogenic mutation in a patient with late onset melas peo overlap syndrome |
| topic | MELAS PEO mutation Chinese gene |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2022.927823/full |
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