MELAS SYNDROME: DETECTION OF SPECIFIC MUTATIONS IN THE MTTL1 GENE
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The study for MELAS syndrome (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes) detects the main pathogenic mutations in the mitochondrial gene MTTL1, which encodes leucine transfer RNA (tRNA-Leu). This analysis identifies the most frequent variants associated with MELAS: A3243G, C3256T, A3252G, C3093G, G3244A, T3258C, T3271C, and T3291C, which are related to mitochondrial protein synthesis dysfunction and impaired cellular energy production.
MELAS syndrome manifests with recurrent neurological episodes, lactic acidosis, myopathy, seizures, hearing loss, and visual disturbances. Analysis is performed using specific, highly sensitive molecular techniques that allow for the detection of mutations even in the presence of heteroplasmy.
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