Gene/phenotype/disorder under study
UQCRQ
Abstract
UQCRQ, located in chromosome 5q31.1, encodes a subunit of mitochondrial complex III, a multiprotein homodimeric complex involved in ubiquinol oxidation, cytochrome c reduction and extrusion of protons across the inner mitochondrial membrane. UQCRQ is a supernumerary subunit and acts as an ubiquinone-binding protein, encapsulating the catalytic core and stabilising the mature cytochrome b.
Biallelic UQCRQ variants have been related to human disease in approximately 25 reported cases. Mitochondrial complex III deficiency nuclear type 4 (MC3DN4) is an early-onset neurodegenerative disease manifesting with severe psychomotor delay, movement disorders (dystonia, athetosis, ataxia), hyperreflexia, gait disturbances, cognitive decline and radiological abnormalities in the basal ganglia.
Following the identification of novel cases with biallelic variants in UQCRQ, we aim to establish the phenotypic and genotypic spectrum of UQCRQ-related mitochondrial disorder and to define its natural history in an international cohort.
Coordinating clinician
Dr Francesca Magrinelli – f.magrinelli@ucl.ac.uk
Institution
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: Yes (not mandatory)
2- Resampling of patients: No
3- Linked to a translational/basic research project: No