Mutations in nuclear DNA Sample Clauses

Mutations in nuclear DNA. Mutations in nuclear genes encoding mitochondrial targeted proteins will also affect mitochondrial function and OXPHOS. This might occur via defects in proteins regulating mitochondrial replication – autosomal dominant PEO is attributed to mutations in the catalytic subunit of pol γ, the mtDNA helicase Twinkle and ANT (Xxxxxxxx, 2008). Mutations in genes encoding for TK2 and dGUOK, which are required for synthesis of dNTPs for mtDNA replication (Figure 1.7), are also associated with depletion of mtDNA levels (Xxxxxx et al., 2001; Xxxxx et al., 2001). Similarly, mutations in TP, resulting in a decrease in enzyme activity and an accumulation of thymidine, lead to depletion or deletions in mtDNA in patients with mitochondrial neuro gastro-intestinal encephalomyopathy (MNGIE), possibly via an aberrant regulation of thymidine availability for DNA synthesis (Xxxxxxx et al., 1999).
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