Researchers from the Keck School of Medicine of USC have made an important advance toward understanding—and potentially treating—a rare cardiomyopathy (heart muscle disease) that is present from birth. The condition, known as AARS2-related cardiomyopathy, is caused by inherited mutations in the alanyl-transfer RNA (tRNA) synthetase 2 (AARS2) gene and is often fatal within the first year of life. Currently, no treatment or cure exists. Past efforts to treat AARS2-related cardiomyopathy have focused on repairing mutations in the AARS2 gene. But a new study reveals that another gene, PCBP1, may offer an alternative way to intervene. Although PCBP1 is not the gene that causes the disease, the researchers found that it helps control how the non-mutated AARS2 gene functions in heart cells, making it a possible new point of intervention to prevent damage to the heart. In mice and lab-grown human heart cells, they found that switching off PCBP1 reproduces key features of the disease. They also uncovered how the damage happens, including by disrupting mitochondria, which produce the energy that fuels cells. The findings suggest that targeting PCBP1 could help restore healthier AARS2 function in heart cells.

Caring for a spouse with dementia is arguably one of the most emotionally and physically demanding roles a person can take on, but new research from Rice University suggests the experience is not defined by the diagnosis alone. It is shaped by the relationship behind it.

The study, published in Biopsychosocial Science and Medicine, examines how relationship dynamics influence the mental and physical health of people caring for spouses with Alzheimer’s disease and related dementias.

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