Management of Leigh syndrome: Current status and new insights
Journal
Clinical Genetics
Journal Volume
93
Journal Issue
6
Pages
1131-1140
Date Issued
2018
Author(s)
Abstract
Leigh syndrome (LS) is an inherited mitochondrial encephalopathy associated with gene mutations of oxidative phosphorylation 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 pre-clinical studies. In this review, we summarize the genetic basis of LS, current treatment, pre-clinical studies in animal models and the management of other mitochondrial diseases. Future therapeutical strategies and challenges are also discussed. ? 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Subjects
genetics; Leigh syndrome; neurology; therapy and pre-clinical research
SDGs
Other Subjects
dichloroacetic acid; pyruvic acid; rapamycin; ubidecarenone; vitamin; Adeno associated virus; exercise; heredity; human; hypoxia; ketogenic diet; Leigh disease; metabolic regulation; mitochondrial biogenesis; nonhuman; preclinical study; priority journal; Review; viral gene therapy; disorders of mitochondrial functions; genetic predisposition; genetics; Leigh disease; medical research; metabolism; mitochondrion; Biomedical Research; Genetic Predisposition to Disease; Humans; Leigh Disease; Mitochondria; Mitochondrial Diseases
Publisher
Blackwell Publishing Ltd
Type
review