Two useful biomarkers for a muscle-manifesting mitochondrial disease

Italian and Norwegian researchers report on their work concerning MELAS syndrome (an acronym for Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes), a mitochondrial cytopathy with neuromuscular manifestations:

• although the presence of the m.3243A>G variant indicates the existence of the syndrome, the clinical phenotype can vary, ranging from the classic form to less severe phenotypes;
• neurofilament light chain (NF-L) and circulating free mitochondrial DNAmacromolécule complexe, l’ADN est le support de l’hérédité (gènes). C’est le constituant des chromosomes. L’ADN est organisé en double hélice (deux brins complémentaires) et constitué de nucléotides de quatre types : adénine, guanine, cytosine et thymine. (ccf-mtDNA) were studied using serum samples from patients presenting these different phenotypes, both at baseline and during disease progression.

According to this research, the two biomarkers under consideration appear to predict the occurrence of central neurological events, thereby paving the way for better monitoring and prevention of these complications.

Biomarking MELAS with neurofilament light chain and circulating cell free mitochondrial DNA. Maresca A, Moresco M, Amore G et al. Mol Genet Metab. 2026 Mar