Association of the CAG repeat polymorphism in mitochondrial polymerase gamma (POLG1) with male infertility: a case-control study in an Algerian population.
The novel homozygous p.M797I POLG mutation is responsible for mitochondrial neuro-gastrointestinal encephalo-myopathy (MNGIE) combined to optic atrophy and Mitochondrial DNA(mtDNA) depletion in the two patients.
This study showed that Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity.
This study discovered a complex genomic regulatory locus for POLG containing three functional central nervous system -specific enhancers that drive expression specifically in oculomotor complex and sensory interneurons of the spinal cord completely overlapping with the regions showing neuronal death in POLG patients.
The rs758130 in POLG gene was significantly associated with the prognosis of patients in a dose-dependent manner. Moreover GG genotype in rs1061316 showed significantly high mtDNA content an indicator of better prognosis.
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