Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a complex mitochondrial disorder characterized by a wide range of systemic manifestations. Key clinical features include recurrent stroke-like episodes, seizures, lactic acidosis, muscle weakness, exercise in...
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MDPI AG
2024-11-01
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| Online Access: | https://www.mdpi.com/2218-273X/14/12/1524 |
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| author | Ji-Hoon Na Young-Mock Lee |
| author_facet | Ji-Hoon Na Young-Mock Lee |
| author_sort | Ji-Hoon Na |
| collection | DOAJ |
| description | Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a complex mitochondrial disorder characterized by a wide range of systemic manifestations. Key clinical features include recurrent stroke-like episodes, seizures, lactic acidosis, muscle weakness, exercise intolerance, sensorineural hearing loss, diabetes, and progressive neurological decline. MELAS is most commonly associated with mutations in mitochondrial DNA, particularly the m.3243A>G mutation in the <i>MT-TL1</i> gene, which encodes tRNALeu (CUR). These mutations impair mitochondrial protein synthesis, leading to defective oxidative phosphorylation and energy failure at the cellular level. The clinical presentation and severity vary widely among patients, but the syndrome often results in significant morbidity and reduced life expectancy because of progressive neurological deterioration. Current management is largely focused on conservative care, including anti-seizure medications, arginine or citrulline supplementation, high-dose taurine, and dietary therapies. However, these therapies do not address the underlying genetic mutations, leaving many patients with substantial disease burden. Emerging experimental treatments, such as gene therapy and mitochondrial replacement techniques, aim to correct the underlying genetic defects and offer potential curative strategies. Further research is essential to understand the pathophysiology of MELAS, optimize current therapies, and develop novel treatments that may significantly improve patient outcomes and extend survival. |
| format | Article |
| id | doaj-art-38d1c8443676467d8a5a28a0f43c5cfd |
| institution | Kabale University |
| issn | 2218-273X |
| language | English |
| publishDate | 2024-11-01 |
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| series | Biomolecules |
| spelling | doaj-art-38d1c8443676467d8a5a28a0f43c5cfd2024-12-27T14:13:41ZengMDPI AGBiomolecules2218-273X2024-11-011412152410.3390/biom14121524Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes SyndromeJi-Hoon Na0Young-Mock Lee1Departments of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06229, Republic of KoreaDepartments of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06229, Republic of KoreaMitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a complex mitochondrial disorder characterized by a wide range of systemic manifestations. Key clinical features include recurrent stroke-like episodes, seizures, lactic acidosis, muscle weakness, exercise intolerance, sensorineural hearing loss, diabetes, and progressive neurological decline. MELAS is most commonly associated with mutations in mitochondrial DNA, particularly the m.3243A>G mutation in the <i>MT-TL1</i> gene, which encodes tRNALeu (CUR). These mutations impair mitochondrial protein synthesis, leading to defective oxidative phosphorylation and energy failure at the cellular level. The clinical presentation and severity vary widely among patients, but the syndrome often results in significant morbidity and reduced life expectancy because of progressive neurological deterioration. Current management is largely focused on conservative care, including anti-seizure medications, arginine or citrulline supplementation, high-dose taurine, and dietary therapies. However, these therapies do not address the underlying genetic mutations, leaving many patients with substantial disease burden. Emerging experimental treatments, such as gene therapy and mitochondrial replacement techniques, aim to correct the underlying genetic defects and offer potential curative strategies. Further research is essential to understand the pathophysiology of MELAS, optimize current therapies, and develop novel treatments that may significantly improve patient outcomes and extend survival.https://www.mdpi.com/2218-273X/14/12/1524mitochondrial encephalopathy lactic acidosis and stroke-like episodesMELASmitochondrial disease<i>MT-TL1</i>stroke-like episode |
| spellingShingle | Ji-Hoon Na Young-Mock Lee Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome Biomolecules mitochondrial encephalopathy lactic acidosis and stroke-like episodes MELAS mitochondrial disease <i>MT-TL1</i> stroke-like episode |
| title | Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome |
| title_full | Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome |
| title_fullStr | Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome |
| title_full_unstemmed | Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome |
| title_short | Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome |
| title_sort | diagnosis and management of mitochondrial encephalopathy lactic acidosis and stroke like episodes syndrome |
| topic | mitochondrial encephalopathy lactic acidosis and stroke-like episodes MELAS mitochondrial disease <i>MT-TL1</i> stroke-like episode |
| url | https://www.mdpi.com/2218-273X/14/12/1524 |
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