Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice.

ABSTRACT:

Background

Variants in the mitochondrial complex I assembly factor, NUBPL are associated with a rare cause of complex I deficiency mitochondrial disease. Patients affected by complex I deficiency harboring homozygous NUBPL variants typically have neurological problems including seizures, intellectual disability, and ataxia associated with cerebellar hypoplasia. Thus far only 19 cases have been reported worldwide, and no treatment is available for this rare disease.

Methods

To investigate the pathogenesis of NUBPL-associated complex I deficiency, and for translational studies, we generated a knock-in mouse harboring a patient-specific variant Nubpl c.311T>C; p. L104P reported in three families.

Results

Similar to Nubpl global knockout mice, the Nubpl p. L104P homozy

SUBMITTER: Cheng C 

PROVIDER: S-EPMC9594925 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature