MELAS Syndrome Characteristics and Treatment

Disease Characteristics

• MELAS syndrome is characterized by stroke-like episodes that typically don't conform to specific arterial territories and preferentially involve the posterior cerebral hemispheres 1, 2
• The syndrome is associated with exercise intolerance and onset before 40 years of age 1
• Seizures and ragged-red muscle fibers are common features of MELAS syndrome 1
• Migraine-like headaches are also a characteristic of the syndrome 1

Pathophysiology and Diagnosis

• MELAS syndrome results from altered cellular metabolism affecting small cerebral vessels, impeding blood flow to the affected cortex or causing dysfunction of autoregulatory mechanisms 1
• The A3243G mutation in mitochondrial DNA is found in approximately 80% of MELAS patients 1

Treatment Approaches

• L-arginine, a nitric oxide precursor, improves endothelial function in individuals with MELAS by flow-mediated vasodilation 1, 2
• Vitamin C is used to support mitochondrial function 1
• Riboflavins may help support the electron transport chain 1
• Idebenone, a synthetic analog of coenzyme Q10, is used in treatment 1
• Dichloroacetate may help reduce lactic acid levels 1