Collaboration

This collaboration started with brain MRI studies in mitochondrial disorders, performed by Bindu Parayil Sankaran, who successfully defended this work as part of her PhD thesis in 2018 in Maastricht (Promotor Bert Smeets). The resulting patient cohort was studied at NIMHANS and at MHeNS in order to find the underlying the genetic defect in the mitochondrial or nuclear genome, providing a genetic diagnosis and appropriate counselling for the patients.

The accepted paper resulted from whole exome sequencing of a subgroup of patients with progressive external ophthalmoplegia and multiple deletions in the mitochondrial DNA. In one patient we found a deletion of 3 nucleotides in the C1QBP gene, which caused an in-frame deletion of an important amino acid in the C1QBP protein. C1QBP is a relatively novel gene, involved in mtDNA maintenance, providing further insight in this complex process. We are still working together on other patients, so it is likely that we will reveal additional genes and pathological mechanisms in mitochondrial disorders and potentially novel targets for treatment.