May 19, 2O23

Gene Mutation Linked to Pediatric Heart Failure

Researchers from the University of Maryland School of Medicine found a genetic mutation that may be linked to the development of heart failure in infants.

Most pediatric heart failure cases stem from dilated cardiomyopathy. Dilated cardiomyopathy (DCM) is characterized by an enlarged round left ventricle which cannot efficiently pump blood. While pediatric DCM is relatively rare, it usually has a poor prognosis which can only be treated through a cardiac transplant.  

The new research published in the April issue of Circulation suggests that instead of a heart transplant, drug treatments that can reverse the gene mutation’s effect on heart muscle cells could be utilized.

Dr. Hong and his colleagues harvested stem cells from a patient’s diseased heart and found a defect on the gene responsible for encoding the rotatin (RTTN) protein. Without the RTTN protein, the heart muscle cells become disorganized, making them unable to contract properly.  

To confirm their findings, the researchers removed the RTTN protein in fruit flies and zebrafish and saw that the animal heart muscle cells also showed the same dysfunction as the human heart cells. The researchers then used a drug known to correct cell structure and confirmed that the drug was able to restore muscle cell organization and contractility on the patient’s stem cells.  

While future studies are needed to verify the findings, it is hoped that this discovery can be used to develop more child-specific treatments therapies for heart failure.

Chun, Y. W., Miyamoto, M., Williams, C. H., Neitzel, L. R., Silver-Isenstadt, M., Cadar, A. G., Fuller, D. T., Fong, D. C., Liu, H., Lease, R., Kim, S., Katagiri, M., Durbin, M. D., Wang, K., Feaster, T. K., Sheng, C. C., Neely, M. D., Sreenivasan, U., Cortes-Gutierrez, M., . . . Hong, C. C. (2023). Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated Cardiomyopathy. Circulation.

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