loading...| Preferred Name |
MELAS Syndrome |
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| Synonyms |
PathwayType: signaling Organ: pancreas Link: https://mammal-profservices.pathwaystudio.com/app/sd?urn=urn:agi-pathway:uuid-9662419c-8806-40b7-947d-2c6872258caa Organ_System: endocrine system PMID: 15657614 CellType: insulin-secreting cell Description: Pathway is built manually using published studies. NodeType: Pathway Pathway_Author: S. Sozin www.researchgate.net/profile/Sergey-Sozin PMID: 24917879 Notes: Headnote: MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a form of mitochondrial cytopathy. MELAS is caused by mutations in genes of the mitochondrial electron transport chain and/or mitochondrial transfer RNAs. Signaling description: Normally, mitochondrial electron transport chain helps convert oxygen and simple sugars to energy in the form of ATP. Several of the genes affected in MELAS, including ND1, ND5, ND6, CYTB, and COX3, encode proteins of mitochondrial complexes I, III and IV. Mutations in these genes result in impaired oxidative phosphorylation system in mitochondria and then impaired insulin secretory capacity of pancreatic beta cells. Mutations in mitochondrial specific transfer RNA (TRNL1) cause more than 80% of all cases of MELAS. They impair the ability of mitochondria to make proteins, use oxygen, and produce energy. Mutations of other mitochondrial transfer RNA may be found in rare cases of MELAS (including TRNF, TRNV, TRNH, TRNQ, and others which are not included on the pathway). Source: Diseases |
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| ID |
urn:agi-pathway:uuid-9662419c-8806-40b7-947d-2c6872258caa |
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| database_cross_reference |
PS:PathwayType PS:Description PS:Pathway_Author PS:Link PS:CellType PS:Organ_System PS:PMID PS:NodeType PS:Notes PS:Organ PS:Source |
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| has_exact_synonym |
PathwayType: signaling Organ: pancreas Organ_System: endocrine system PMID: 15657614 CellType: insulin-secreting cell Description: Pathway is built manually using published studies. NodeType: Pathway Pathway_Author: S. Sozin www.researchgate.net/profile/Sergey-Sozin PMID: 24917879 Notes: Headnote: MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a form of mitochondrial cytopathy. MELAS is caused by mutations in genes of the mitochondrial electron transport chain and/or mitochondrial transfer RNAs. Signaling description: Normally, mitochondrial electron transport chain helps convert oxygen and simple sugars to energy in the form of ATP. Several of the genes affected in MELAS, including ND1, ND5, ND6, CYTB, and COX3, encode proteins of mitochondrial complexes I, III and IV. Mutations in these genes result in impaired oxidative phosphorylation system in mitochondria and then impaired insulin secretory capacity of pancreatic beta cells. Mutations in mitochondrial specific transfer RNA (TRNL1) cause more than 80% of all cases of MELAS. They impair the ability of mitochondria to make proteins, use oxygen, and produce energy. Mutations of other mitochondrial transfer RNA may be found in rare cases of MELAS (including TRNF, TRNV, TRNH, TRNQ, and others which are not included on the pathway). Source: Diseases |
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| id |
urn:agi-pathway:uuid-9662419c-8806-40b7-947d-2c6872258caa |
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| label |
MELAS Syndrome |
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| notation |
uuid-9662419c-8806-40b7-947d-2c6872258caa |
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| prefLabel |
MELAS Syndrome |
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| treeView |
urn:agi-folder:mitochondria urn:agi-folder:m urn:agi-folder:endocrine_system urn:agi-folder:diabetic_mellitus_syndromes urn:agi-folder:melas_syndrome |
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| subClassOf |
urn:agi-folder:mitochondria urn:agi-folder:m urn:agi-folder:endocrine_system urn:agi-folder:diabetic_mellitus_syndromes urn:agi-folder:melas_syndrome |