From Nature Middle East, 22 March 2023:
Deficiency of an enzyme vital for the integrity of the membranes that encase muscle fibres is behind age-related muscle wasting and an inherited genetic disorder that causes severe neurological and muscle problems, researchers have found.
In humans, genetic mutations affecting the function of the enzyme phosphatidylethanolamine cytidyltransferase (PCYT2) lead to a disorder known as hereditary spastic paraplegia, which causes developmental delay and muscle degeneration. However, the role that PCYT2 plays in muscle development and health is not well understood.
An international team of researchers led by Domagoj Cikes, from the Institute of Molecular Biotechnology of the Austrian Academy of Sciences, and including Fathiya al-Murshedi, from Sultan Qaboos University in Oman, engineered mice and zebrafish with muscle tissue deficient in PCYT2 to explore its effects.
They found that when the activity of PCYT2 is compromised, it affects the double layer of lipids that make up the bilayer membrane surrounding the muscle fibres. This leads to a membrane that is softer, less rigid, and allows more movement of molecules across it. “If you have a compromised stability in terms of the durability of this bilayer, then little by little it’s going to get damaged and this damage is going to accumulate,” Cikes says. Read more.