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Projects. Life and Matter Sciences

Characterisation of MORC2, a new gene involved in peripheral neuropathies

Lead Researcher:
Carmen Espinós Armero

Research Centre:
Centro de Investigación Príncipe Felipe. Valencia.


Carmen Espinós ArmeroSensory-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.

Researcher's website:

Carmen Espinós Armero

Dr. Espinós graduated in Biological Sciences (Universitat de València) in 1993. She started her scientific work in Human Genetics while writing her doctoral thesis, which she presented in 1998. Since then she has taken part in projects connected with the genetic bases of retinopathies, congenital coagulation pathologies, metabolic diseases and peripheral neuropathologies. Since 2009 she is the Miguel Servet researcher in the Centro de Investigacion Biomédica en Red de Enfermedades Raras (CIBERER).She is the author of many publications on the genetic bases of rare diseases in major international journals. Certified in Human Genetics by the Asociación Española de Genética Humana, she is a scientific advisor to the Servicio de Genómica y Genética Traslacional del Centro de Investigación Príncipe Felipe (CIPF) and associate professor of the Department of Genetics in the Universitat de València.

Since 2012 Dr. Espinós has headed the Unidad de Genética y Genómica de Enfermedades Neuromusculares del Programa de Enfermedades Raras y Genéticas in the CIPF, where the main lines of research include the characterisation of new genes and new mutations involved in hereditary peripheral neuropathies, together with the study of the underlying disease mechanisms in this group of disorders.

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