Muscat – Dr Fatema Abdullah al Salmi, lecturer at University of Technology and Applied Sciences (UTAS), has discovered a new gene that causes hereditary spastic paraplegia (HSP).
HSP refers to a group of hereditary, degenerative and neurological disorders that are characterised by progressive weakness and stiffness of the legs.
Fatema’s project – titled ‘TMEM63C’ – was the winner in the Health and Social Services category in the Annual Research Forum Awards, organised by the Ministry of Higher Education, Research and Innovation.
Speaking to Muscat Daily, Fatema said, “TMEM63C mutations cause mitochondrial morphology defects and underlie HSP. The main finding was that we identified a new gene, called TMEM63C, as a cause of HSP in two Omani siblings.”
According to the researcher, diagnosis of HSP is challenging as its symptoms overlap with those of other diseases. “The research aimed to identify the genetic cause of this rare genetic neurological condition in Oman.”
About the outcome of the research project, Fatema said, “This work provides important new scientific evidence through identification of new genetic causes of HSP, while also empowering efforts to develop effective diagnostic testing strategies tailored to the spectrum of Omani monogenic diseases.”
Highlighting the global relevance of the gene identification study in Oman, this finding, Fatema noted, led to the discovery of other HSP conditions worldwide with distinct deleterious mutations in TMEM63C associated with the same clinical outcome.
“While more detailed investigations of TMEM63C are certainly required, our collaborative research studies highlight the potential role of TMEM63C in ER-mitochondrial integrity maintenance, defining the likely pathogenic basis of this disease. Data from this work provides new insights into a potential neurological role of this gene, and will likely contribute to the wider understanding of the pathomolecular basis of this highly heterogeneous neurodegenerative condition.”
Of the future, Fatema said that she is hopeful that she will get a grant to continue the research as there are a number of Omani families affected by HSP but the genetic cause is still unknown.
HSP primarily affects the upper motor neurons. These neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in turn, carry messages to the muscles. In HSP, upper motor neurons slowly degenerate so the muscles do not receive the correct messages, causing progressive spasticity (increased muscle tone/stiffness) and weakness of the legs. This leads to difficulty in walking.