Therapies for Mitochondrial Disorders
Mitochondria are cytoplasmic, double-membrane organelles that synthesise adenosine triphosphate (ATP). Mitochondria contain their own genome, mitochondrial DNA (mtDNA), which is maternally inherited from the oocyte. Mitochondrial proteins are encoded by either nuclear DNA (nDNA) or mtDNA, and both c...
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Technological University Dublin
2022-12-01
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| Series: | SURE Journal: (Science Undergraduate Research Experience Journal) |
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| Online Access: | https://arrow.tudublin.ie/sure_j/vol4/iss1/3 |
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| author | Kayli Sousa Smyth Anne Mulvihill |
| author_facet | Kayli Sousa Smyth Anne Mulvihill |
| author_sort | Kayli Sousa Smyth |
| collection | DOAJ |
| description | Mitochondria are cytoplasmic, double-membrane organelles that synthesise adenosine triphosphate (ATP). Mitochondria contain their own genome, mitochondrial DNA (mtDNA), which is maternally inherited from the oocyte. Mitochondrial proteins are encoded by either nuclear DNA (nDNA) or mtDNA, and both code for proteins forming the mitochondrial oxidative phosphorylation (OXPHOS) complexes of the respiratory chain. These complexes form a chain that allows the passage of electrons down the electron transport chain (ETC) through a proton motive force, creating ATP from adenosine diphosphate (ADP). This study aims to explore current and prospective therapies for mitochondrial disorders (MTDS). MTDS are clinical syndromes coupled with abnormalities of the ETC and OXPHOS, caused by pathogenic variants in mtDNA or nDNA. Many MTDS emerge from either homoplasmic or heteroplasmic mutations of the DNA, and include mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. Current therapies include increasing mitochondrial biogenesis, the use of antioxidants, dietary approaches, and exercise. However, these are mostly symptomatic and supportive therapies. Future therapies comprise of personalised and precision medicine approaches which include gene, mitochondrial, cell, and in utero-based therapies. Obstacles towards discovering effective therapies include the rarity of MTDS, its pathogenic complexity and lack of clinical trials. Despite the lack of current curative therapies for MTDS, emerging therapies promise exciting and clinically meaningful therapies in the future. |
| format | Article |
| id | doaj-art-47bd1ea7a55a4e45b503c49c3bb4f828 |
| institution | Kabale University |
| issn | 2990-8167 |
| language | English |
| publishDate | 2022-12-01 |
| publisher | Technological University Dublin |
| record_format | Article |
| series | SURE Journal: (Science Undergraduate Research Experience Journal) |
| spelling | doaj-art-47bd1ea7a55a4e45b503c49c3bb4f8282025-01-31T10:28:14ZengTechnological University DublinSURE Journal: (Science Undergraduate Research Experience Journal)2990-81672022-12-014110.21427/dst1-ft32Therapies for Mitochondrial DisordersKayli Sousa Smyth0https://orcid.org/0000-0002-1260-8561Anne Mulvihill1Technological University of the Shannon: Midlands MidwestTechnological University of the Shannon: Midlands MidwestMitochondria are cytoplasmic, double-membrane organelles that synthesise adenosine triphosphate (ATP). Mitochondria contain their own genome, mitochondrial DNA (mtDNA), which is maternally inherited from the oocyte. Mitochondrial proteins are encoded by either nuclear DNA (nDNA) or mtDNA, and both code for proteins forming the mitochondrial oxidative phosphorylation (OXPHOS) complexes of the respiratory chain. These complexes form a chain that allows the passage of electrons down the electron transport chain (ETC) through a proton motive force, creating ATP from adenosine diphosphate (ADP). This study aims to explore current and prospective therapies for mitochondrial disorders (MTDS). MTDS are clinical syndromes coupled with abnormalities of the ETC and OXPHOS, caused by pathogenic variants in mtDNA or nDNA. Many MTDS emerge from either homoplasmic or heteroplasmic mutations of the DNA, and include mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. Current therapies include increasing mitochondrial biogenesis, the use of antioxidants, dietary approaches, and exercise. However, these are mostly symptomatic and supportive therapies. Future therapies comprise of personalised and precision medicine approaches which include gene, mitochondrial, cell, and in utero-based therapies. Obstacles towards discovering effective therapies include the rarity of MTDS, its pathogenic complexity and lack of clinical trials. Despite the lack of current curative therapies for MTDS, emerging therapies promise exciting and clinically meaningful therapies in the future.https://arrow.tudublin.ie/sure_j/vol4/iss1/3mitochondrial diseasesrosmtdsmtdnamitochondriaoxidative phosphorylationtherapiesmitochondria dysfunction |
| spellingShingle | Kayli Sousa Smyth Anne Mulvihill Therapies for Mitochondrial Disorders SURE Journal: (Science Undergraduate Research Experience Journal) mitochondrial diseases ros mtds mtdna mitochondria oxidative phosphorylation therapies mitochondria dysfunction |
| title | Therapies for Mitochondrial Disorders |
| title_full | Therapies for Mitochondrial Disorders |
| title_fullStr | Therapies for Mitochondrial Disorders |
| title_full_unstemmed | Therapies for Mitochondrial Disorders |
| title_short | Therapies for Mitochondrial Disorders |
| title_sort | therapies for mitochondrial disorders |
| topic | mitochondrial diseases ros mtds mtdna mitochondria oxidative phosphorylation therapies mitochondria dysfunction |
| url | https://arrow.tudublin.ie/sure_j/vol4/iss1/3 |
| work_keys_str_mv | AT kaylisousasmyth therapiesformitochondrialdisorders AT annemulvihill therapiesformitochondrialdisorders |