NIMHANS and MHeNs fighting mitochondrial disease together

Last month, a paper was accepted for publication in Neuromuscular Disorders, which was the result of a successful collaboration between NIMHANS and MHeNS, aimed at resolving the genetic causes of mitochondrial disorders and finding novel treatment options.

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.

Also read

  • When nitrous oxide (laughing gas) is used recreationally, its presence remains detectable in the breath and bloodstream for at least 60 minutes after inhalation, and the development of an instrument to measure it is technically feasible. These were among the findings of a study at Maastricht...

  • Three research consortia recently received 3.1 million euros from the Dutch Research Council (NWO) and the Dutch Arthritis Society (ReumaNederland) for research into the early detection of osteoarthritis. Two of these three are Maastricht based projects. 

  • Researchers from Maastricht University and University Medical Centre Utrecht have shown that a ‘digital twin’ of 45 patients with heart failure can correctly predict the effectiveness of pacemaker treatment. A digital twin is a computer model that processes a variety of data from the clinic to...

More news