Management of Leigh Syndrome: current status and new insights.

Management of Leigh Syndrome: current status and new insights. Clin Genet. 2017 Sep 14;: Authors: Chen L, Cui Y, Jiang D, Ma CY, Tse HF, Hwu WL, Lian Q Abstract Leigh syndrome (LS) is an inherited mitochondrial encephalopathy associated with gene mutations of oxidative phosphorylation(OXPHOS) pathway that result in early disability and death in affected young children. Currently, LS is incurable and unresponsive to many treatments, although some case reports indicate that supplements can improve the condition. Many novel therapies are being continuously tested in preclinical studies. In this review, we summarize the genetic basis of LS, current treatment, preclinical studies in animal models and the management of other mitochondrial diseases. Future therapeutical strategies and challenges are also discussed. PMID: 28905387 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/28905387?dopt=Abstract

Source: Clinical Genetics - September 14, 2017 Category: Genetics & Stem Cells Authors: Chen L, Cui Y, Jiang D, Ma CY, Tse HF, Hwu WL, Lian Q Tags: Clin Genet Source Type: research