Israeli Researchers Uncover Groundbreaking Solution to Muscle Diseases

Muscle weakness and pain have been a common side effect for those taking statins, a popular cholesterol-lowering medication. Now, a research team from Ben-Gurion University of the Negev and Soroka Medical Center have developed a new solution to this issue. The team discovered a severe hereditary muscle disease caused by a mutation in the gene encoding HMG CoA reductase and inhibiting the enzyme’s activity. After synthesizing and purifying Methylmevalonolactone, the normal product of HMG CoA reductase, the researchers tested the medication on a patient near death and saw remarkable results.

The patient, who was previously completely immobile and dependent on artificial ventilation, has improved dramatically. Not only did she stop deteriorating, but she can now breathe without support, move her arms and legs, and even feed her grandchild. The research team believes that this treatment could help dozens to hundreds of people affected by this hereditary disease.

In addition to the hereditary disease, the researchers also tested the medication on a mouse model system mimicking human statin myopathy. The results showed that the medication was extremely effective in treating muscle pain and weakness caused by statin use. This is the first study to link muscle problems to statin use.

The entire research process, from human genetics and biochemistry studies to the human and mouse trials, was part of Dr. Yuval Yogev’s PhD thesis and guided by Prof. Ohad Birk. The study was published in the Proceedings of the National Academy of Sciences (PNAS) and supported by the Israel Science Foundation. The research team is now seeking financial support and collaboration with the pharmaceutical industry to bring this life-saving treatment to patients worldwide.


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