The New York State Office for People With Developmental Disabilities’ Institute for Basic Research collaborates in a study of rare variants associated with developmental delay and intellectual disability

IBR takes part in collaborative study that examines the link between NAA10 variants and cardiac arrhythmia

The Office for People With Developmental Disabilities today announced that a multi-institute team, including a physician-researcher from the New York State Office for People With Developmental Disabilities' (OPWDD) Institute for Basic Research in Developmental Disabilities (IBR) has published a study of a link between rare variants in the NAA10 gene and cardiac arrhythmia. Individuals with these rare variants exhibit symptoms such as developmental delay, intellectual disability and cardiac dysfunction.

To further their previous studies of abnormalities in electrical signaling in Ogden syndrome and another syndrome caused by an NAA10 variant, the research team investigated the electrical signaling of two individuals with these syndromes to determine if they exhibited cardiac arrhythmia. The team found that these individuals exhibited what is called long QT syndrome, a heart signaling disorder that can cause fast, chaotic heartbeats. The researchers later conducted experiments testing the efficacy of several medications in treating this arrhythmia and found that they were effective.

This study improves understanding of the link between NAA10 variants and cardiac arrhythmia. It will help facilitate the development of new tools for the treatment of long QT syndrome caused by NAA10 variants.

“These findings help us expand what we know about the effects of genetic variants that are linked to developmental disabilities and how we can treat those effects,” said Kerri E. Neifeld, Commissioner of OPWDD. “With each advance, we improve our ability to help people lead more healthy, fulfilling lives.”

The study’s findings were published in the article, “Studying Long QT Syndrome Caused by NAA10 Genetic Variants Using Patient-Derived Induced Pluripotent Stem Cells,” in the prestigious journal Circulation.

IBR psychiatrist-researcher Gholson J. Lyon, MD, PhD, in a collaboration with scientists at Stanford University; Cold Spring Harbor Laboratory; Vanderbilt University; the City University of New York; and Guangzhou Medical University, China, conducted the study. The first author of the published study is Nadjet Belbachir, PhD, and the co-corresponding authors are Joseph C. Wu, MD, PhD, and Ning Ma, PhD, all currently or previously affiliated with Stanford University.

This study was funded in part by OPWDD, the National Institutes of Health, the Leducq Foundation, the American Heart Association and the Tobacco-Related Disease Research Program.

About OPWDD and IBR:
The Institute for Basic Research in Developmental Disabilities (IBR) is the research arm of the New York State Office for People With Developmental Disabilities (OPWDD). IBR also provides clinical services and conducts educational programs. OPWDD is responsible for coordinating services for New Yorkers with developmental disabilities, including intellectual disabilities, cerebral palsy, Down syndrome, autism spectrum disorders, Prader-Willi syndrome, and other neurological impairments.

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