News

A deficiency in the FMRP protein, the underlying cause of fragile X syndrome (FXS), may affect the system within nerve cells that breaks down unwanted proteins, a mouse study suggests. Data showed that FMRP, its related protein FXR1, and DLG4 gene’s messenger RNA (mRNA) are involved in this protein…

University of Rochester researcher Lynne E. Maquat, PhD, is co-recipient of this year’s Gruber Genetics Prize for her discovery of nonsense-mediated mRNA decay (NMD), a protein quality control system within cells. Maquat and her team subsequently discovered that this control system is in overdrive in cells of people with…

KGK Science will launch a Phase 2a trial in the coming months to test NM-1001, a psilocybin microdose therapy — meaning one that contains low doses of the hallucinogenic compound — in people with fragile X syndrome. The company has received a needed exemption from the Canadian government…

The absence of fragile X mental retardation protein (FMRP) — absent or at low levels in people with fragile X syndrome — leads to protein changes linked to inflammatory processes in a brain region called the prefrontal cortex, according to a new study in mice. In mice without FMRP,…

Girls and women with fragile X syndrome show different learning impairments relative to boys and men with the disease, a finding that was paralleled in a mouse model of the disease, a study found. A feature common across both sexes and species was a difficulty in cognitive flexibility, or…

Cell growth and signaling, as well as cholesterol production, are significantly altered in lab-grown astrocytes — the star-shaped brain cells that provide support to neurons — derived from people with fragile X syndrome, a study shows. The patient-derived cells also had altered levels of a number of proteins that…

A pilot study in the U.S. shows that repeated sampling of hair follicles in people with fragile X syndrome, collected both at home and clinics, can be used to measure the levels of FMRP protein — whose production is impaired in fragile X patients. In addition, measuring FMRP levels using…

Treatment with a small molecule called pireperone rescued cognitive and behavioral impairments in a mouse model of fragile X syndrome, making it a potential therapy candidate for the rare genetic disorder, a study reported. Pireperone’s beneficial effects were likely associated with a significant increase in the activity of the…

Caregivers can accurately recognize signs of anxiety in people with fragile X syndrome whose ability to articulate their emotional state is limited, a new study shows. “While most people with FXS [fragile X syndrome] cannot reliably describe their internal body or emotional states to support self-reported assessment procedures, the…

A tripledemic — high rates of respiratory syncytial virus, influenza, and COVID-19 — is slowing enrollment in the Phase 3 clinical trial testing Zygel, Zynerba Pharmaceuticals’ experimental cannabidiol gel, in children and adolescents with fragile X syndrome. These environmental factors are causing unexpectedly higher cancellations of the initial…