Article
Neuropathological hallmarks in autopsied cases with mitochondrial diseases caused by the mitochondrial 3243A>G mutation.
Brain pathology (Zurich, Switzerland) - 1 Nov 2023
Miyahara Hiroaki, Tamai Chisato, Inoue Masanori, Sekiguchi Kazuhito, Tahara Daisuke, Tahara Nao, Takeda Kazuhiro, Arafuka Shusei, Moriyoshi Hideyuki, Koizumi Ryuichi, Akagi Akio, Riku Yuichi, Sone Jun, Yoshida Mari, Ihara Kenji, Iwasaki Yasushi
Abstract excerpt
The mitochondrial (m.) 3243A>G mutation is known to be associated with various mitochondrial diseases including mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Their clinical symptoms have been estimated to occur with an increased mitochondrial DNA (mtDNA) heteroplasmy and reduced activity of oxidative phosphorylation (OXPHOS) complexes, but their trends in the central...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.