INFORMATION:
Funding
This work was supported by Mayo Clinic's Windland Smith Rice Comprehensive Sudden Cardiac Death Program (MJA), the Dr. Scholl Foundation (MJA), Mayo Clinic's Center for Individualized Medicine High-Definition Therapeutics grant (MJA), and Mayo Clinic's Department of Molecular Pharmacology and Experimental Therapeutics training grant under National Institutes of Health award T32GM072474 (SMD and MJA).
Disclosures
Dr. Ackerman is a consultant for Abbott, Armgo Pharma Inc., Audentes Therapeutics, Boston Scientific Corporation, Daiichi Sankyo Co. Ltd., Invitae Corporation, LQT Therapeutics Inc., Medtronic, MyoKardia, and UpToDate Inc. Dr. Ackerman and Mayo Clinic are involved in an equity/royalty relationship with AliveCor Inc.
About Mayo Clinic
Mayo Clinic is a nonprofit organization committed to innovation in clinical practice, education and research, and providing compassion, expertise and answers to everyone who needs healing. Visit the Mayo Clinic News Network for additional Mayo Clinic news and Mayo Clinic Facts for more information about Mayo.
First hybrid gene therapy shows early promise in treating long QT syndrome
2021-01-28
(Press-News.org) ROCHESTER, Minn. -- In a new study published in Circulation, Mayo Clinic researchers provide the first preclinical, proof-of-concept study for hybrid gene therapy in long QT syndrome, a potentially lethal heart rhythm condition.
Researchers demonstrated its potential therapeutic efficacy in two in vitro model systems using beating heart cells reengineered from the blood samples of patients with 1 long QT syndrome. They targeted the whole KCNQ1 gene rather than specific LQT1-causative mutations, making this study applicable to all patients with long QT syndrome 1, regardless of their specific disease-causing variant.
The team consisted of Mayo Clinic researchers from Mayo Clinic's:
Department of Cardiovascular Medicine.
Department of Molecular Pharmacology and Experimental Therapeutics.
Department of Pediatric and Adolescent Medicine.
Center for Individualized Medicine.
Center for Regenerative Medicine.
The prevalence of long QT syndrome is about 1 in 2,000. When untreated, high-risk patients have an estimated 10-year mortality of 50%.
Long QT syndrome is a genetic heart rhythm condition that can potentially cause fast, chaotic heartbeats. These rapid heartbeats might trigger people to suddenly faint. Some people with the condition have seizures. In some severe cases, long QT syndrome can cause sudden cardiac death. The most common subtype, type 1 long QT syndrome, or LQT1, is caused by pathogenic variants in the KCNQ1 gene.
"Gene therapy is an emerging area of interest for treating a variety of genetic heart diseases in general and long QT syndrome in particular," says Michael Ackerman, M.D. Ph.D., a Mayo Clinic genetic cardiologist and director of Mayo Clinic's Windland Smith Rice Comprehensive Sudden Cardiac Death Program. "We designed and developed the first suppression and replacement KCNQ1gene therapy approach for the potential treatment of patients with type 1 long QT syndrome." Dr. Ackerman is senior author of this study.
According to Dr. Ackerman, over the past two decades, substantial improvements have been made to manage long QT syndrome, but current therapies, such as beta blockers and defibrillators, a more invasive therapy, still have limitations, risks and an array of unwanted side effects.
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 try to treat a disease.
According to Dr. Ackerman in this case, this is the first time that hybrid gene therapy (simultaneous out with the old, in with the new) has been created for any form of genetic heart disease.
"If the therapeutic efficacy of this 'disease-in-the-dish' gene therapy trial with KCNQ1 can be replicated in a nonhuman, animal model of long QT syndrome, then suppression-replacement (hybrid) gene therapy may be a promising strategy for long QT syndrome in general and in theory almost any sudden death-predisposing autosomal dominant genetic heart disease," says Dr. Ackerman. "Of course, we still have a long way to go from nearly curing a patient's heart cells in the dish to effectively treating the whole person. Nevertheless, we are excited by this first critical milestone and look forward to the next step."
In addition to heart disease, researchers at Mayo Clinic's Center for Individualized Medicine are investigating an approach to replace and fix mutated genes in a wide range of genetic disorders.
ELSE PRESS RELEASES FROM THIS DATE:
635 million-year-old fungi-like microfossil that bailed us out of an ice age discovered
2021-01-28
When you think of fungi, what comes to mind may be a crucial ingredient in a recipe or their amazing ability to break down dead organic matter into vital nutrients. But new research by Shuhai Xiao, a professor of geosciences with the Virginia Tech College of Science, and Tian Gan, a visiting Ph.D. student in the Xiao lab, highlights yet another important role that fungi have played throughout the Earth's history: helping the planet recover from an ice age.
A team of scientists from Virginia Tech, the Chinese Academy of Sciences, Guizhou Education University, and University of Cincinnati has discovered the remains of a fungi-like microfossil that ...
Deeper insight into how tick spit suppresses cattle immunity
2021-01-28
A tick saliva study reveals immune responses that could lead to better protection for cattle.
Scientists from Hokkaido University, Japan and Universidade Federal do Rio Grande do Sul and Universidade Federal do Rio de Janeiro, Brazil, have revealed that substances in tick saliva activates immune response-suppressing proteins in cattle that facilitates the transmission of tick-borne diseases. The finding was published in the journal Scientific Reports and could help in the development of alternative control strategies.
The Asian blue tick, Rhipicephalus microplus, feeds on cattle, causing skin lesions, ...
Turning food waste back into food
2021-01-28
There's a better end for used food than taking up space in landfills and contributing to global warming.
UC Riverside scientists have discovered fermented food waste can boost bacteria that increase crop growth, making plants more resistant to pathogens and reducing carbon emissions from farming.
"Beneficial microbes increased dramatically when we added fermented food waste to plant growing systems," said UCR microbiologist Deborah Pagliaccia, who led the research. "When there are enough of these good bacteria, they produce antimicrobial compounds and metabolites that help plants grow better and faster."
Since the plants in this experiment were grown in a greenhouse, the benefits of the waste ...
Reconstruction shows increased global warming trends since 1850s
2021-01-28
Earth is warming rapidly, but there is too little observational data in some regions such as the Arctic or high-altitude areas like the Qinghai-Tibetan plateau to adequately and consistently assess temperature variations across the globe. To better understand how temperatures have increased, an international team led by researchers at Sun Yat-Sen University in China has released a newly merged global surface temperature dataset, including reconstructed land and marine measurements from the 1850s to 2018. The study provides evidence that there was a consistent increased warming trend compared with previous estimations, which closely matches the available observational data and updated simulations covering the past two decades.
The approach ...
Generous parental leave leads to staff shortages, nursing home deaths
2021-01-28
A new paper in the Review of Economic Studies, published by Oxford University Press, finds that a generous parental leave policy nurses enjoyed in Denmark caused nursing shortages, which resulted in a decline in the quality of hospital and nursing home care. The study estimates a large increase in nursing home mortality.
Beginning in 1994 a parental-leave program in Denmark offered any parent the opportunity to take up to a full year off work, paid, for every child under the age of nine. The researchers find that many nurses in Denmark took advantage of this program. Nurses, however, could not be replaced on net despite the Danish government's efforts to expand education and immigration ...
Eyes reveal life history of fish
2021-01-28
If you look deep into the eyes of a fish, it will tell you its life story.
Scientists from the University of California, Davis, demonstrate that they can use stable isotopic analysis of the eye lenses of freshwater fish -- including threatened and endangered salmon -- to reveal a fish's life history and what it ate along the way.
They conducted their study, published today in the journal Methods in Ecology and Evolution, through field-based experiments in California's Central Valley. The study carries implications for managing floodplains, fish and natural resources; prioritizing habitat restoration efforts; and understanding how landscape disturbances impact fish.
The technique had previously been used in marine environments, ...
Voters perceive political candidates with a disability as qualified for elected office
2021-01-28
Worldwide, over one billion people live with a disability. Historically, they have been discriminated against and stigmatized by society. To improve their rights, they should be included in political decision-making, yet there is a lack of political representatives who are known to have a disability. This under-representation may be due to several factors, including how voters perceive a political candidate with a disability. However, a new study published in Frontiers in Political Science, found for the first time that voters do not apply negative stereotypes when evaluating candidates with a disability. Rather, voters tend to perceive candidates with a disability as capable, ...
Drug prices in the U.S. are 2.56 times those in other nations
2021-01-28
Prescription drug prices in the United States are significantly higher than in other nations, with prices in the U.S. averaging 2.56 times those seen in 32 other nations, according to a new RAND Corporation report.
The gap between prices in the U.S. and other countries is even larger for brand-named drugs, with U.S. prices averaging 3.44 times those in comparison nations.
The RAND study found that prices for unbranded generic drugs -- which account for 84% of drugs sold in the U.S. by volume but only 12% of U.S. spending -- are slightly lower in the U.S. than in most other nations.
"Brand-name drugs are the primary driver of the higher prescription drug prices in the U.S.," said Andrew Mulcahy, lead author of the study and a senior health policy researcher at RAND, a ...
COVID-19: 1 in 3 adults anxious, depressed
2021-01-28
SINGAPORE, 28 January 2021 - One in three adults, particularly women, younger adults, and those of lower socioeconomic status, are experiencing psychological distress related to COVID-19, researchers at Duke-NUS Medical School, Singapore, reported in the journal PLOS ONE.
COVID-19 continues to pose serious threats to public health across the globe, and interventions such as lockdowns, quarantine and social distancing are having an adverse impact on the mental well-being of populations. The pandemic has escalated the burden of psychological distress, including anxiety, depression, post-traumatic stress and insomnia. However, the factors associated with increased susceptibility to psychological distress among adults in the general population during COVID-19 ...
Enhanced recovery efforts for cesarean delivery reduce need for opioids by 80%
2021-01-28
Results of study by Children's Hospital Colorado, presented at the Society for Maternal Fetal Medicine's Annual Meeting, show a third of patients not needing narcotic pain pills after c-section
Aurora, Colo. (Jan. 28, 2021) In a retrospective analysis of cesarean deliveries from 2015 through 2020, a team of doctors from the Colorado Fetal Care Center at Children's Hospital Colorado (Children's Colorado) found that using a wound infusion pump in combination with enhanced recovery efforts such as removing urinary catheters earlier and walking around the same day of surgery can reduce opioid use by more than 80%. Also notable, ...