PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Scripps Florida scientists turn muscular dystrophy defect on and off in cells

2013-06-28
(Press-News.org) JUPITER, FL, June 28, 2013 – For the first time, scientists from the Florida campus of The Scripps Research Institute (TSRI) have identified small molecules that allow for complete control over a genetic defect responsible for the most common adult onset form of muscular dystrophy. These small molecules will enable scientists to investigate potential new therapies and to study the long-term impact of the disease.

"This is the first example I know of at all where someone can literally turn on and off a disease," said TSRI Associate Professor Matthew Disney, whose new research was published June 28, 2013, by the journal Nature Communications. "This easy approach is an entirely new way to turn a genetic defect off or on."

Myotonic dystrophy is an inherited disorder, the most common form of a group of conditions called muscular dystrophies that involve progressive muscle wasting and weakness.

Myotonic dystrophy type 1 is caused a type of RNA defect known as a "triplet repeat," a series of three nucleotides repeated more times than normal in an individual's genetic code. In this case, a cytosine-uracil-guanine (CUG) triplet repeat binds to the protein MBNL1, rendering it inactive and resulting in RNA splicing abnormalities.

To find drug candidates that act against the defect, Disney and his colleagues analyzed the results of a National Institutes of Health (NIH)-sponsored screen of more than 300,000 small molecules that inhibit a critical RNA-protein complex in the disease.

The team divided the NIH hits into three "buckets"—the first group bound RNA, the second bound protein, and a third whose mechanism was unclear. The researchers then studied the compounds by looking at their effect on human muscle tissue both with and without the defect.

Startlingly, diseased muscle tissue treated with RNA-binding compounds caused signs of the disease to go away. In contrast, both healthy and diseased tissue treated with the protein-binding compounds showed the opposite effect—signs of the disease either appeared (in healthy tissue) or became worse.

The new compounds will serve as useful tools to study the disease on a molecular level. "In complex diseases, there are always unanticipated mechanisms," Disney noted. "Now that we can reverse the disease at will, we can study those aspects of it."

In addition, Disney said, with the new discovery, scientists will be able to develop a greater understanding of how to control RNA splicing with small molecules. RNA splicing can cause a host of diseases that range from sickle-cell disease to cancer, yet prior to this study, no tools were available to control specific RNA splicing.



INFORMATION:

The first authors of the study, "Induction and Reversal of Myotonic Dystrophy Type 1 Pre-mRNA Splicing Defects by Small Molecules," are Jessica L. Childs-Disney of TSRI, Ewa Stepniak-Konieczna of Adam Mickiewicz University (Poland) and Tuan Tran of TSRI. Other authors include Ilyas Yildirim and George C. Schatz of Northwestern University; HaJeung Park of TSRI; Catherine Z. Chen, Noel Southall, Juan J. Marugan, Samarjit Patnaik, Wei Zheng and Chris P. Austin of the NIH; Krzysztof Sobczak of Adam Mickiewicz University; and Charles A. Thornton and Jason Hoskins of the University of Rochester.

The study was funded by TSRI; the Muscular Dystrophy Association (158552); the National Institutes of Health (3R01GM079235 and 1R01GM079235; AR049077 and U54NS48843); the National Cancer Institute (1U54CA143869); the Molecular Libraries Initiative of the National Institutes of Health Roadmap for Medical Research; the Marigold Foundation and the Foundation for Polish Science-TEAM program co-financed by the European Union within the European Regional Development Fund.



ELSE PRESS RELEASES FROM THIS DATE:

Exploring dinosaur growth

2013-06-28
Psittacosaurus, the 'parrot dinosaur' is known from more than 1000 specimens from the Cretaceous, 100 million years ago, of China and other parts of east Asia. As part of his PhD thesis at the University of Bristol, Qi Zhao, now on the staff of the Institute for Vertebrate Paleontology in Beijing, carried out the intricate study on bones of babies, juveniles and adults. Dr Zhao said: "Some of the bones from baby Psittacosaurus were only a few millimetres across, so I had to handle them extremely carefully to be able to make useful bone sections. I also had to be sure ...

Complex activity patterns emerge from simple underlying laws

2013-06-28
A new study from researchers at Uppsala University and University of Havana uses mathematic modeling and experiments on ants to show that a group is capable of developing flexible resource management strategies and characteristic responses of its own. The results are now published in Physical Review Letters. Group-living animals are led to regulate their activity and to make decisions on how to manage resources, under the action of a variety of environmental stimuli and of their intrinsic interactions. The latter are typically cooperative, in the sense that the activity ...

Boat noise stops fish finding home

2013-06-28
Sophie Holles, a PhD researcher at the University of Bristol and one of the study's authors, said: "Natural underwater sound is used by many animals to find suitable habitat, and traffic noise is one of the most widespread pollutants. If settlement is disrupted by boat traffic, the resilience of habitats like reefs could be affected." Sound travels better underwater than in air and reefs are naturally noisy places: fish and invertebrates produce feeding and territorial sounds while wind, waves and currents create other background noise. Boats can be found around all ...

Detached-eddy simulations and analyses on new vortical flows over a 76/40 double delta wing

2013-06-28
The double delta wing is a simplified configuration used for studying aircraft aerodynamics. It is composed of a highly-swept delta wing connected in front of the main delta wing with a smaller sweep, reflecting the combination of a leading edge extension and the swept main wing. The aerodynamic performance of such wings, which includes the behavior of the leeside vortical flows at moderate and high angles of attack (AoA) at low speed, is of research interest. The prominent aerodynamic feature of the delta wing is the dominant leading edge vortex pair on the lee side, ...

Scientists discover new mechanism regulating the immune response

2013-06-28
Scientists at an Academy of Finland Centre of Excellence have discovered a new mechanism regulating the immune response that can leave a person susceptible to autoimmune diseases. A fresh study by Turku Centre for Biotechnology and Aalto University in Finland is the first to report a new mechanism that regulates specification of lymphocytes, the white blood cells pivotal to immune response. By combining state-of-the art techniques, next-generation deep sequencing and computational data mining, the researchers discovered new epigenetic factors regulating lymphocyte function. ...

Dendritic cell therapy improves kidney transplant survival, Pitt team says

2013-06-28
PITTSBURGH, June 28, 2013 -- A single systemic dose of special immune cells prevented rejection for almost four months in a preclinical animal model of kidney transplantation, according to experts at the University of Pittsburgh School of Medicine. Their findings, now available in the online version of the American Journal of Transplantation, could lay the foundation for eventual human trials of the technique. Organ transplantation has saved many lives, but at the cost of sometimes lifelong requirements for powerful immunosuppressive medication that can have serious side ...

Pluripotent stem cell-derived neurons may be a viable Parkinson's disease treatment

2013-06-28
Putnam Valley, NY. (Jun. 28 2013) – A team of researchers from Rush University, Yale University, the University of Colorado and the St. Kitts Biomedical Research Foundation transplanted human embryonic stem cells into primate laboratory animals modeled with Parkinson's disease and found "robust survival" of the cells after six weeks and indications that the cells were "well integrated" into the host animals. The study appears as an early e-publication for the journal Cell Transplantation, and is now freely available on-line at http://www.ingentaconnect.com/content/cog/ct/pre-prints/ct1000wakeman. ...

SCI patients treated with own olfactory ensheathing cells realize neurologic improvement

2013-06-28
Putnam Valley, NY. (June 28 2013) – A team of researchers in Poland who treated three of six paraplegics with spinal cord injury using transplanted olfactory ensheathing cells found that the three treated patients showed neurological improvement and no adverse effects while the three control patients who did not receive transplants saw no improvement. The study appears as an early e-publication for the journal Cell Transplantation, and is now freely available on-line at http://www.ingentaconnect.com/content/cog/ct/pre-prints/ct0799tabakow. "Most accepted treatments ...

Is it alive or dead?

2013-06-28
WASHINGTON D.C., June 27, 2013 -- To the ancients, probing the philosophical question of how to distinguish the living from the dead centered on the "mystery of the vital heat." To modern microbiology, this question was always less mysterious than it was annoying -- researchers have known that biological processes should produce thermal signatures, even within single cells, but nobody ever knew how to measure them. Now, a group of mechanical engineers from Pohang University of Science and Technology in Korea have discovered a way to measure the "thermal conductivity" ...

Type 2 diabetes patients transplanted with own bone marrow stem cells reduces insulin use

2013-06-28
Putnam Valley, NY. (June 28 2013) –A study carried out in India examining the safety and efficacy of self-donated (autologous), transplanted bone marrow stem cells in patients with type 2 diabetes (TD2M), has found that patients receiving the transplants, when compared to a control group of TD2M patients who did not receive transplantation, required less insulin post-transplantation. The study appears as an early e-publication for the journal Cell Transplantation, and is now freely available on-line at http://www.ingentaconnect.com/content/cog/ct/pre-prints/ct0920bhansali. "There ...

LAST 30 PRESS RELEASES:

Scientists trace origins of now extinct plant population from volcanically active Nishinoshima

AI algorithm based on routine mammogram + age can predict women’s major cardiovascular disease risk

New hurdle seen to prostate screening: primary-care docs

MSU researchers explore how virtual sports aid mental health

Working together, cells extend their senses

Cheese fungi help unlock secrets of evolution

Researchers find brain region that fuels compulsive drinking

Mental health effects of exposure to firearm violence persist long after direct exposure

Research identifies immune response that controls Oropouche infection and prevents neurological damage

University of Cincinnati, Kent State University awarded $3M by NSF to share research resources

Ancient DNA reveals deeply complex Mastodon family and repeated migrations driven by climate change

Measuring the quantum W state

Researchers find a way to use antibodies to direct T cells to kill Cytomegalovirus-infected cells

Engineers create mini microscope for real-time brain imaging

Funding for training and research in biological complexity

The Journal of Nuclear Medicine Ahead-of-Print Tip Sheet: September 12, 2025

ISSCR statement on the scientific and therapeutic value of human fetal tissue research

Novel PET tracer detects synaptic changes in spinal cord and brain after spinal cord injury

Wiley advances Knowitall Solutions with new trendfinder application for user-friendly chemometric analysis and additional enhancements to analytical workflows

Benchmark study tracks trends in dog behavior

OpenAI, DeepSeek, and Google vary widely in identifying hate speech

Research spotlight: Study identifies a surprising new treatment target for chronic limb threatening ischemia

Childhood loneliness and cognitive decline and dementia risk in middle-aged and older adults

Parental diseases of despair and suicidal events in their children

Acupuncture for chronic low back pain in older adults

Acupuncture treatment improves disabling effects of chronic low back pain in older adults

How interstellar objects similar to 3I/ATLAS could jump-start planet formation around infant stars

Rented e-bicycles more dangerous than e-scooters in cities

Ditches as waterways: Managing ‘ditch-scapes’ to strengthen communities and the environment

In-situ molecular passivation enables pure-blue perovskite LEDs via vacuum thermal evaporation

[Press-News.org] Scripps Florida scientists turn muscular dystrophy defect on and off in cells