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Mount Sinai identifies first drug to demonstrate therapeutic effect in a type of autism

Researchers from Mount Sinai School of Medicine have identified a drug that improves communication between nerve cells in a mouse model of Phelan-McDermid Syndrome (PMS). Behavioral symptoms of PMS fall under the autism spectrum disorder category. The research will be presented Friday at the International Meeting for Autism Research (IMFAR) in Philadelphia.

Previous research has shown that a gene mutation in the brain called SHANK3 can cause absent or severely delayed language abilities, intellectual disability, and autism. Mount Sinai researchers developed mice with a mutant SHANK3 gene and observed a lapse in communication between nerve cells in the brain, which can lead to learning problems. This communication breakdown indicated that the nerve cells were not maturing properly.

The researchers then injected the mice with a derivative of a compound called insulin-like growth factor-1 (IGF1), which is FDA-approved to treat growth failure in children. After two weeks of treatment, nerve cell communication was normal and adaptation of nerve cells to stimulation, a key part of learning and memory, was restored.

"The result of IGF1 treatment of these mice is an exciting development on the road to ultimate therapies for individuals with PMS," said Joseph Buxbaum, PhD, Director of the Seaver Autism Center for Research and Treatment at Mount Sinai School of Medicine. "If these data are further verified in additional preclinical studies, individuals with a SHANK3 mutation may benefit from treatments with compounds like this one."

Dr. Buxbaum and his team at the Seaver Autism Center will continue to evaluate the efficacy of IGF1 in mice. Patrick Hof, MD, Professor of Neuroscience at Mount Sinai School of Medicine, will specifically evaluate the effects of the compound on neuroanatomical changes. Additionally, Jacqueline Crawley, PhD, Senior Investigator at the National Institutes of Health, will study the effects on behavioral changes in the mice.

The study was supported by grants from the Seaver Foundation to Dr. Buxbaum, from the Simons Foundation to Drs. Buxbaum, Crawley, Hof, and Zhou, and from William G. Gibson and Paulina Rychenkova, PhD, to Dr. Buxbaum.

About The Mount Sinai Medical Center

The Mount Sinai Medical Center encompasses both The Mount Sinai Hospital and Mount Sinai School of Medicine. Established in 1968, Mount Sinai School of Medicine is one of few medical schools embedded in a hospital in the United States. It has more than 3,400 faculty in 32 departments and 15 institutes, and ranks among the top 20 medical schools both in National Institute of Health funding and by U.S. News & World Report. The school received the 2009 Spencer Foreman Award for Outstanding Community Service from the Association of American Medical Colleges.

The Mount Sinai Hospital, founded in 1852, is a 1,171-bed tertiary- and quaternary-care teaching facility and one of the nation's oldest, largest and most-respected voluntary hospitals. In 2009, U.S. News & World Report ranked The Mount Sinai Hospital among the nation's top 20 hospitals based on reputation, patient safety, and other patient-care factors. Nearly 60,000 people were treated at Mount Sinai as inpatients last year, and approximately 530,000 outpatient visits took place.

Mount Sinai Press Office | EurekAlert!
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