Whole Exome Sequencing Reveals Novel Genetic Mitochondrial Disorder
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April 19, 2021
DNA replication and repair involves three distinct DNA ligases: ligase I (LIG1), ligase III (LIG3), and ligase IV (LIG4). LIG3 is the only ligase of the three present in the mitochondria, where it plays a role in mitochondrial DNA (mtDNA) maintenance and repair. Previous studies have shown inactivation of the LIG3 gene has resulted in mitochondrial dysfunction.
Now a team of European and Japanese scientists, led by Mariko Taniguchi-Ikeda, PhD, from Fujita Health University Hospital, have described a set of seven patients with a novel mitochondrial disorder caused by biallelic variants in LIG3. Their findings provide insights into future investigations into the mitochondrial DNA repair system.
Japanese–European scientists detect novel genetic mitochondrial disorder
The list of known genetic mitochondrial disorders is ever-growing, and ongoing research continues to identify new disorders in this category. In an article recently published in Brain, a Japanese-European team of scientists, including researchers from Fujita Health University, describe mutations in the LIG3 gene, which plays a crucial role in mitochondrial DNA replication. These mutations cause a previously unknown syndrome characterized by gut dysmotility, leukoencephalopathy, and neuromuscular abnormalities.
DNA ligase proteins, which facilitate the formation of bonds between separate strands of DNA, play critical roles in the replication and maintenance of DNA. The human genome encodes three different DNA ligase proteins, but only one of those proteins DNA ligase III (LIG3) is expressed in mitochondria. LIG3 is therefore crucial for mitochondrial health, and inactivation of the homologous protein in mice
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