Japanese-European research team discovers novel genetic mitochondrial disorder

New research finds slumped posture not such a pain in the neck after all
16 April 2021
A neuromagnetic view through the skull
16 April 2021

Japanese-European research team discovers novel genetic mitochondrial disorder

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 them—DNA ligase III (LIG3)—is expressed in mitochondria. LIG3 is therefore crucial for mitochondrial health, and inactivation of the homologous protein in mice causes profound mitochondrial dysfunction and early embryonic mortality.

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