Journal
GENES
Volume 12, Issue 2, Pages -Publisher
MDPI
DOI: 10.3390/genes12020284
Keywords
mtDNA deletion; POLG; SSBP1; Pearson syndrome; human
Categories
Funding
- National Research Foundation of Korea [NRF-2015K1A4A3046807, NRF-2018R1D1A1B07043216, NRF-2020M3A9E4036527]
- Asan Institute for Life Sciences, AMC [2017-756, 2018-756]
- National Research Foundation of Korea [2020M3A9E4036527] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
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The research focused on a patient diagnosed with Pearson syndrome, whose father had a POLG gene mutation and mother had a SSBP1 gene mutation, resulting in large mtDNA deletions. The study results suggest that the co-deficient expression of POLG and SSBP1 genes could contribute to the development of mtDNA deletion.
Defects in the mitochondrial genome (mitochondrial DNA (mtDNA)) are associated with both congenital and acquired disorders in humans. Nuclear-encoded DNA polymerase subunit gamma (POLG) plays an important role in mtDNA replication, and proofreading and mutations in POLG have been linked with increased mtDNA deletions. SSBP1 is also a crucial gene for mtDNA replication. Here, we describe a patient diagnosed with Pearson syndrome with large mtDNA deletions that were not detected in the somatic cells of the mother. Exome sequencing was used to evaluate the nuclear factors associated with the patient and his family, which revealed a paternal POLG mutation (c.868C > T) and a maternal SSBP1 mutation (c.320G > A). The patient showed lower POLG and SSBP1 expression than his healthy brothers and the general population of a similar age. Notably, c.868C in the wild-type allele was highly methylated in the patient compared to the same site in both his healthy brothers. These results suggest that the co- deficient expression of POLG and SSBP1 genes could contribute to the development of mtDNA deletion.
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