Researchers at the University of Hong Kong have discovered that a drug used to treat muscular dystrophy also works on a hereditary heart disease called Lamin A/C-related dilated cardiomyopathy. The original article can be read here, at The Standard.
Lamin A/C-related dilated cardiomyopathy is a very rare disease that leads to heart damage and related problems. People who are affected by the disease tend not the display symptoms until they reach forty, at which point they begin to experience health issues linked to their condition including strokes and heart failure. If left untreated these can be deadly. Lamin A/C-related dilated cardiomyopathy is a hereditary disease that is linked to a genetic mutation in the LMNA gene. This gene is involved in a wide variety of biological processes, and mutations to it have been linked to several conditions, including Hutchinson Gilford progeria and muscular dystrophy.
The team of researchers found that a medicine that treats muscular dystrophy could also be used to treat Lamin A/C-related dilated cardiomyopathy, likely due to the similar causes of the two diseases. To research the condition, the scientists took skin cells from three affected families and used them to create heart muscle cells from stem cells. They then tested drugs on these cells and measured their response. One drug the researchers tested was PTC124, a muscular dystrophy treatment that selectively supresses particular genetic mutations. This was found to improve the cells of one of the families by restoring lamin A/C protein production by 80 to 90%. In addition, the drug caused the heart muscles to contract regularly.
The drug PTC124 did not improve the symptoms of the other two family’s cells because their condition was caused by a different genetic mutation that the drug did not target.