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According to the definition used by the Online Mendelian Inheritance in Man Database (OMIM 256000), LS has been defined by these cardinal characteristics: a neurodegenerative disease with variable symptoms due to mitochondrial dysfunction (caused by hereditary genetic defect) accompanied by bilateral Central Nervous System (CNS) lesions that can be associated with further abnormalities in diagnostic imaging. Decades of research after the initial description by Denis Leigh have led to the association of LS with defect(s) in one or several of the electron transport chain (ETC) complexes of the mitochondria

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Other suitable methods for the analysis of DNA methylation, either at a single locus or on a genome-wide scale, include methylcytosine-based DNA immunoprecipitation (MeDIP) and methyl-binding domain capture sequencing (MBDCap-Seq)

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