The Current State of the Mitochondrial Diseases LHON, MELAS and Leigh Syndrome and Their Treatments: A Review

Original Research

Abstract

Metabolic disorders like Leber Hereditary Optic Neuropathy (LHON), Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), and Leigh Syndrome (LS) are severe, rare mitochondrial diseases causing perturbed mitochondrial function. These disorders present a broad spectrum of clinical manifestations, complicating diagnosis and treatment. Management of LHON, MELAS, and LS remains largely supportive, with no FDA-approved treatments available. However, therapies like Idebenone for LHON, L-arginine for MELAS, and EPI-743 for LS are showing significant therapeutic promise and are presently being evaluated in clinical trials for their efficacy and safety. This review delves into the defining characteristics of LHON, MELAS, and LS, highlights the current state of therapeutic developments, and discusses established disease models.