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More insight on how genes affect lean body mass

Scientists from Erasmus MC, along with several other research institutions, are making great progress in understanding the genetics behind lean body mass, which consists primarily of skeletal muscle mass. A new study, published July 19th in the journal Nature Communications, outlines their findings in what is the largest, most comprehensive genetic study of lean mass to date.

The study found evidence that lean mass is highly heritable. By understanding the genetic contributions to lean mass - and thus of muscle mass - future treatments may be developed to prevent the loss of lean mass with aging which may lead to a condition called 'sarcopenia' stemming from the Greek term meaning poverty of flesh. Sarcopenia is a syndrome characterized by progressive and generalized loss of skeletal muscle mass and strength and it is associated with physical disability, poor quality of life and death.

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Dr. Carola Zillikens, one of the first authors of the publication and head of the Bone Center at Erasmus MC, mentioned the importance to obtain insight into the cause of loss of muscle mass and strength with aging which may lead to functional impairments, disabilities, and to an increased risk of falls and fractures. "This insight is very important since there are currently no drugs that can prevent the development of sarcopenia."
With the study, scientists aimed to pinpoint the genes associated with lean mass that may one day lead to therapies that will curtail loss of lean mass and to gain more insight in the contributions muscle mass has to the body’s metabolism.

Unwanted situation
"The findings of this study are not only important because they may lead to the development of therapies to reduce the loss of muscle mass with aging" Dr. Zillikens says. "They also show that some genetic variants that we found associated with more lean mass are also associated with more fat mass while other variants influence fat mass and lean mass in the opposite direction. This may indicate that some therapies being developed to increase muscle mass with aging may lead to more fat mass while some new therapies being developed to fight obesity with the aim to reduce fat mass may also reduce muscle mass. This would be an unwanted situation for most obese people because muscles are important not only for strength of the body and bones but also for the capacity to burn fat."

Muscle mass
The project involved more than 50 individual studies and a total of about 100,000 study participants from around the world that all contributed data to discover the genetic determinants of lean mass. The scientists also used information from many large pre-existing sources of genetic data to understand their findings, including information from individuals who had undergone muscle biopsies. Ultimately the goal is gain more insight in the biologic processes that lead to a loss of muscle mass, reduced physical strength, and frailty as people get older.

Date published: 19 July 2017.

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