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Related Experiment Video

Updated: Nov 6, 2025

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry
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C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring

Eva Lausberg1, Sebastian Gießelmann1, Joseph P Dewulf2,3

  • 1Institute of Human Genetics, Medical Faculty, Rheinisch-Westfaelische Technische Hochschule (RWTH) Aachen University, Aachen, Germany.

The Journal of Clinical Investigation
|May 4, 2021
PubMed
Summary

Researchers identified loss-of-function mutations in the C2orf69 gene, revealing its critical role in mitochondrial function and impacting brain development, liver health, and immune responses. This discovery sheds light on previously uncharacterized genes and their role in human pathophysiology.

Keywords:
Genetic diseasesGeneticsMitochondriaNeurological disorders

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Area of Science:

  • Genetics and Molecular Biology
  • Cellular Biology
  • Human Pathophysiology

Background:

  • Understanding uncharacterized genes is crucial for comprehending cellular functions and diseases.
  • The C2orf69 gene was previously uncharacterized, prompting investigation into its biological role.

Purpose of the Study:

  • To elucidate the function of the uncharacterized C2orf69 gene.
  • To investigate the genetic basis of observed clinical phenotypes.

Main Methods:

  • Whole-exome sequencing to identify mutations.
  • Yeast 2-hybrid and transcriptome analyses for protein interactions and gene expression.
  • Molecular characterization including CRISPR/Cas9 gene editing and cellular assays.

Main Results:

  • Loss-of-function mutations in C2orf69 were found in individuals with hypomyelination, microcephaly, liver dysfunction, and autoinflammation.
  • C2orf69 localizes to mitochondria and its deficiency causes respiratory chain defects.
  • Patient cells showed altered immune signaling and impaired glycogen metabolism, indicated by PAS-positive material and reduced GBE1 activity.

Conclusions:

  • C2orf69 is identified as a key regulator of human mitochondrial function.
  • The gene also influences other metabolic pathways, including glycogen metabolism.
  • Defects in C2orf69 contribute to a complex syndrome affecting multiple organ systems.