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MT-TS2: MT-TS2 is a gene that encodes for a transfer RNA (tRNA) molecule in the mitochondrial genome. The m.12207G > A variant in the MT-TS2 gene has been associated with complex I deficiency and various clinical manifestations, including developmental delay, feeding difficulty, proximal muscle weakness, lesions within the basal ganglia, cerebral atrophy, increased blood lactate, liver dysfunction, and fatty infiltration in muscle [PMC10034148]. Northern blot analysis has shown that the levels of several transcripts encoded on the L strand of mitochondrial DNA are less decreased in the absence of POLRMT compared to transcripts encoded on the H strand [PMC4975551]. In a patient with complex I deficiency and developmental delay, a homoplasmic mitochondrial variant of uncertain significance (VOUS) was detected in MT-TS2 (m.12236G>A) [PMC8743230]. Additionally, there was a heterozygous missense mutation in the NLRP3 gene [PMC8743230]. The distribution of mutations across various mitochondrial tRNA genes is extensive [PMC7755120]. In a study comparing gene signaling interactions between offspring from high-fat diet-fed and control mice, MT-TS2 was identified as one of several genes upregulated in high-fat diet offspring [PMC5494892].
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