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Science Saturday: Novel suppression-replacement preclinical gene therapy study shows promise in long and short QT syndromes
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In a new study published in Circulation: Genomics & Precision Medicine, Mayo Clinic researchers designed and developed the first suppression-replacement KCNH2 gene therapy for correcting both long QT syndrome (LQTS) and short QT syndrome (SQTS).
LQTS is a genetic heart disease that can potentially cause fast, chaotic heartbeats. These rapid heartbeats might trigger people to faint suddenly. Some people with this disease have abnormal heart rhythm-mediated seizures and sudden cardiac arrest. In some severe cases, LQTS can cause sudden cardiac death. The prevalence of LQTS is about 1 in 2,000. If left untreated, high-risk patients with LQTS have an estimated 10-year mortality of 50%. Like LQTS, SQTS is potentially lethal, but is much less common.
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"Our novel suppression-replacement gene therapy is intended to treat patients regardless of the hundreds of nonsynonymous mutations they may host that cause their specific LQT1 or their LQT2."
Michael Ackerman, M.D., Ph.D.
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The two most common subtypes of long QT syndrome are type 1 long QT syndrome (LQT1) and type 2 long QT syndrome (LQT2). LQT1 is caused by disease-causing variants in the KCNQ1 gene, whereas LQT2 is caused by disease-causing variants in the KCNH2 gene.
Gene therapy is a technique that treats diseases caused by defective genes by altering genes in a patient's cells rather than using drugs or surgery. Genes contain DNA — the code that controls the body's form and function. Gene therapy replaces faulty genes or adds a new gene to treat a disease.
"Our novel suppression-replacement gene therapy is intended to treat patients regardless of the hundreds of nonsynonymous mutations they may host that cause their specific LQT1 or their LQT2," says Michael Ackerman, M.D., Ph.D. a Mayo Clinic genetic cardiologist and director of Mayo Clinic's Windland Smith Rice Genetic Heart Rhythm Clinic and Comprehensive Sudden Cardiac Death Program.
Read the rest of the article on the Center for Individualized Medicine blog.
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Other Mayo Clinic medical research websites:
- Research at Mayo Clinic
- Discovery’s Edge
- Advancing the Science
- Mayo Clinic Laboratories
- Forefront
- Center for Regenerative Biotherapeutics
- Center for the Science of Health Care Delivery
- Mayo Clinic Cancer Center
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