Role of mitochondrial dynamics in neuronal development: Mechanism for Wolfram syndrome

• 作 者: MichalCagalinec[1]MailisLiiv[1]ZuzanaHodurova[1]AnnikaVaarmann[1]MerleMandel[1]AkbarZeb[1]MalleKuum[1]MiriamHickey[1]DzhamiljaSafiulina[1]VinayChoubey[1]EeroVasar[2]VladimirVeksler[3]AllenKaasik[1]
• 机 构: Department of Pharmacology, University of Tartu, Estonia
• 出 处: The 7th International Symposium on Autophagy 2015(第七届自噬国际研讨会
• 发表日期: 2015年期

　　Wolfram syndrome (DIDMOAD;WS) is a genetic disorder characterized by diabetes insipidus,diabetes mellitus, optical atrophy, deafness and brain atrophy that results in death in middle adulthood, typically due to brainstem atrophy-induced respiratory failure.The majority of WS cases are related to mutations in the gene Wolfram syndrome 1 (WFS1) that encodes a protein localized in the endoplasmic reticulum (ER) membrane.Number of studies have pointed out the involvement of WFS1 in ER stress and it has been therefore suggested that the ER stress plays a causative role in WS.However, the clinical symptoms of WS resemble mitochondrial disease symptoms and suggest strong mitochondrial involvement in this disease.We therefore decided to examine the hypothesis that Wfs1 deficiency could disturb the mitochondrial dynamics and by that also affect neuronal function.