Lipid synthesis key to muscle health, Israeli researchers develop medication for rare disease.
Researchers at Ben-Gurion University and Soroka-University Medical Center have developed a medication for statin myopathy, a condition that causes paralysis and leads to death. The disease is caused by a mutation in the gene encoding HMG CoA reductase, inhibiting the enzyme’s activity. The team synthesized and purified Methylmevalonolactone, the normal product of HMG CoA reductase that is missing in those patients. The medication has been tested for safety in mice and has been given to the most severely affected patient, who has improved dramatically. The researchers are now seeking financial support and/or collaboration with the pharmaceutical industry to push forward standardized production and licensing of the medication.