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Ketogenic diet reduces Lafora bodies in murine Lafora disease
Neurology Genetics ( IF 3.0 ) Pub Date : 2020-12-01 , DOI: 10.1212/nxg.0000000000000533
Lori Israelian 1 , Peixiang Wang 1 , Shoghig Gabrielian 1 , Xiaochu Zhao 1 , Berge A Minassian 1
Affiliation  

Lafora disease (LD) is a teenage-onset fatal progressive myoclonus epilepsy caused by loss-of-function mutations in the EPM2A gene encoding the glycogen phosphatase laforin or EPM2B encoding the laforin-interacting ubiquitin E3 ligase malin. Concerted actions of glycogen synthase (GS) and branching enzyme generate normal short-branched soluble glycogen. In LD, some glycogen molecules develop long branches, precipitate, and accumulate into pathognomonic and pathogenic Lafora bodies (LBs). The precise mechanism by which the laforin-malin complex mitigates this is unknown, but thought to involve GS downregulation. In fact, transgenic GS downregulation in LD mouse models reduces LB formation and rescues the disease.1,2



中文翻译:

生酮饮食减少了小鼠 Lafora 病中的 Lafora 小体

Lafora 病 (LD) 是一种青少年发作的致命性进行性肌阵挛性癫痫,由编码糖原磷酸酶 laforin的EPM2A基因或编码与laforin相互作用的泛素 E3 连接酶 malin 的 EPM2B 基因的功能丧失突变引起。糖原合酶 (GS) 和分支酶的协同作用产生正常的短支链可溶性糖原。在 LD 中,一些糖原分子长出分支、沉淀并积累成特征性和致病性的 Lafora 小体 (LB)。laforin-malin 复合物减轻这种情况的确切机制尚不清楚,但被认为涉及 GS 下调。事实上,LD 小鼠模型中的转基因 GS 下调减少了 LB 形成并挽救了疾病。1,2

更新日期:2020-11-21
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