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Characterisation of MORC2, a new gene involved in peripheral neuropathies

17th national competition for scientific and technical research

Rare diseases

Senior Researcher : Carmen Espinós Armero

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Research Centre or Institution : Centro de Investigación Príncipe Felipe


Sensory-motor hereditary neuropathies (SMHN) or Charcot-Marie-Tooth's disease (CMT) are a group of diseases with broad genetic heterogeneity. The proteins that code these genes have dissimilar functions: structural, mitochondrial dynamics and signalling, etc. By sequencing the exome in a family a new mutation was discovered: c.568C>T (p.R190W) in the MORC2 gene, which until then had not been associated with neuropathies. Subsequent mutational analysis of this gene in other patients led to the identification of a second family with the same mutation. Subsequent genetic and in silico analyses have confirmed the change and shown that it is probably pathological. MORC2 belongs to the microorchidia (MORC) family of proteins. It has recently been shown to form a part of the PAK1 signalling cascade activated in response to DNA damage. Faults in the DNA repair mechanisms may be the cause of neurodegenerative diseases and others associated with the development of cancer. Surprisingly, in spite of the fact that SMHNs are neurodegenerative diseases, no genes involved in DNA repair are known to be associated with them. It is essential to discover the function of MORC2 and its role in patients with SMHNs to understand how defects in genes that code for functionally very different proteins may cause a shared phenotype. Therefore, the results of this research will lead to better understanding of the molecular bases of SMHNs in particular and DNA repair mechanisms in general, which when altered are linked to neurodegenerative and cancerous processes.

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