Researchers have found that increasing the activity of a specific potassium channel called Kv1.2 with an omega-3 fatty acid present in fish oil restores nerve cell function and certain behaviors in mice with fragile X syndrome. These findings highlight Kv1.2 as a potential therapeutic target for fragile X.
News
More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…
Human induced pluripotent stem cells, also known as iPSCs, are valuable tools for discovering new targets and treatment strategies for several diseases, including autism spectrum disorders, despite some limitations that still need to be overcome, according to a review study. In the study, “Induced pluripotent stem…
High levels of a pro-inflammatory molecule called interleukin (IL)-6 in the brain could be key to abnormal neuronal communication in fragile X syndrome, a mouse study reports. The study, “Regulation of IL-6 Secretion by Astrocytes via TLR4 in the Fragile X Mouse Model,” appeared in the…
New interactions involving the FMRP and p53 proteins were found to play an important part in neural defects associated with fragile X syndrome, a new mouse study shows. The study, “Dysregulation and restoration of homeostatic network…
Neurotrope announced it will initiate a clinical trial in children with fragile X syndrome. The company, which will conduct the trial in collaboration with the The Nemours/Alfred I. duPont Hospital for Children, in Wilmington, Delaware, have not given a date for the study’s start. The trial will assess the safety and…
Poor “social gaze” skills, or an inability to make and hold eye contact during a social interaction, is a common problem for fragile X syndrome patients but can be improved with standard behavioral training, according to the results of a proof-of-concept study. The study, “Improving social gaze behavior in fragile…
The production of several large proteins from stored messenger RNAs (mRNAs) — molecules that contain instructions to make proteins — is defective in fragile X syndrome and most likely other autism spectrum disorders as well, according to a fruit fly study. The study, “Fragile X mental retardation 1…
The majority of Iranian patients with fragile X syndrome (FXS) may have a delayed diagnosis, a small study suggests. These results highlight the need to increase awareness among health professionals and the general population. The small report, “Complications in Diagnosis of Susceptible Cases of Fragile X Syndrome,”…
A mouse model of fragile X syndrome reinforces the abnormal sleep structure observed in fragile X patients, revealing likely adverse consequences for memory processes, a study has found. The study, “Abnormal Sleep Architecture and Hippocampal Circuit Dysfunction in a Mouse Model of Fragile X Syndrome,” was published in the…
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