Tag Archive: mHTT protein

May 1 2018

Does an Impaired Biological Pathway Help Explain Heart Problems in Huntington’s Disease?

The Findings:

Researchers gained new insights into the heart problems that are the second leading cause of death in patients with Huntington’s disease (HD). An incurable, inherited disease with progressive loss of brain cells and motor function, HD occurs when a defective gene produces repeated copies of a protein called huntingtin, or HTT. The mutant HTT (mHTT) protein disrupts multiple fundamental cellular processes along the mTORC1 pathway that promotes cell growth and metabolism. The study team described how decreased mTORC1 activity contributed to the development of heart disease with stress in mouse models of HD. By restoring cardiac mTORC1 activity, the researchers improved the animals’ heart function and survival over the course of the study.

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