Sarcopenia and mitochondria
Variants in the mitochondrial gene are associated with age-related decline in muscle function
Taisiya Latypova, PCR.news
With age, many people develop sarcopenia — loss of muscle mass and skeletal muscle function. People are becoming less mobile, which negatively affects their quality of life. In addition to mobility and diet, genetic factors also affect the rate of development of the disease. Despite the widespread occurrence of this phenomenon, biomarkers predicting the development of sarcopenia are extremely rare and little studied.
A group of scientists from the University of Southern California (USA) investigated the contribution of the alh-6 gene in nematodes Caenorhabditis elegans and ALDH4A1 in humans in decreased mobility with age and the development of sarcopenia. These genes encode enzymes involved in mitochondrial proline catabolism. Mutations in alh-6 and ALDH4A1 lead to an increase in the level of reactive oxygen species and disruption of mitochondria.
The authors screened the descendants of about 4,000 mutant F1-C hybrids. elegans and identified 96 animals among them with signs of oxidative stress in muscle tissues. To the surprise of scientists, mutations in the alh-6 gene were found in each of them. In nematodes mutated by alh-6, mobility deteriorated over time, they swam and crawled worse compared to healthy animals.
Next, the scientists checked whether the homologue of alh-6 in humans – ALDH4A1 – is associated with a change in mobility in old age. To do this, they analyzed data from elderly people from the US Health and Retirement study in the USA. More than 36 thousand people aged 50 years and older took part in this study.
Scientists have traced the association of mutations in the ALDH4A1 gene with changes in muscle mobility and function in the elderly. It turned out that people who had some ALDH4A1 alleles were slower to walk and had less grip strength.
The authors concluded that groups of genes that interact with each other are involved in the decrease in mobility with age. In addition, environmental factors and lifestyle contribute. However, scientists have found a new biomarker of muscle strength and mobility. The authors hope to continue the research and involve more scientists to develop the project.
The article by Villa et al. Genetic variation in ALDH4A1 is associated with muscle health over the lifespan and across species is published in the journal eLife.
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