Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy

Rocío Rius; Neal K. Bennett; Kaustuv Bhattacharya; Lisa G. Riley; Zafer Yüksel; Luke E. Formosa; Alison G. Compton; Russell C. Dale; Mark J. Cowley; Velimir Gayevskiy; Saeed M. Al Tala; Abdulrahman A Almehery; Michael T. Ryan; David R. Thorburn; Ken Nakamura; John Christodoulou

doi:10.1002/humu.24453

August 28, 2022Human MutationOpen Access

Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy

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Key Points

Determine the clinical impact of biallelic pathogenic variants in COX11 and investigate potential metabolic treatment strategies for affected individuals.
Investigated patients presenting with infantile-onset mitochondrial encephalopathy harboring biallelic variants in COX11.
Assessed mitochondrial energy production defects and tested metabolic therapeutic interventions in model systems.
Pathogenic biallelic variants in COX11 lead to significant defects in cellular energy production.
Identified a viable metabolic therapeutic strategy to potentially rescue energy deficiency in patients with COX11 variants.

Implication

Genetic study reveals infantile-onset mitochondrial encephalopathy caused by biallelic COX11 mutations, suggesting potential metabolic therapeutic strategies.

Abstract

. These results not only suggest that COX11 variants cause defects in energy production but reveal a potential metabolic therapeutic strategy for patients with COX11 variants.

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Cite This Study

Rius et al. (2022) studied this question.

synapsesocial.com/papers/6a036dba1d52164a4d81ea94 https://doi.org/10.1002/humu.24453

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Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy

Key Points

Implication

Abstract

Discussion

Cite This Study

Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy

Key Points

Implication

Abstract

Discussion

Cite This Study

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