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A single maternal-inherited MELAS case presented with recurrent seizures and stroke-like episodes following valproate therapy, in which an m.3243A>G mutation was detected in mitochondrial DNA but localizes to MT-TL1 rather than MT-CO2, and no pathogenic MT-CO2 coding changes have been reported to date (PMID:9243242). Thus far, there is no segregation data, replication in additional unrelated families, or functional assays directly implicating MT-CO2 variants in MELAS pathology. The clinical validity of an MT-CO2–MELAS association remains limited.
Gene–Disease AssociationLimitedSingle proband with MELAS; no MT-CO2 variant identified; no segregation or replication Genetic EvidenceLimitedOnly one case report; absence of MT-CO2 coding mutations Functional EvidenceLimitedNo direct functional studies linking MT-CO2 variants to MELAS |