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1 week ago | 
rettsyndromenews.com | Andrea Lobo |Steve Bryson |Vanda Pinto |Marisa Wexler
A new study highlights how MeCP2 protein dysfunction, particularly related to changes in alternative splicing — a process by which different proteins can be made from the same gene — implicated in brain function, may contribute to Rett syndrome. Specifically, the researchers found that in both Rett patients and mouse models of Rett, there were changes in genes related to synaptic function, or the transmission of nerve signals between cells.
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3 weeks ago | 
myastheniagravisnews.com | Marisa Wexler |Margarida Maia |Lindsey Shapiro |Vanda Pinto
Scientists in Korea have developed a cell-based test that can be used to detect antibodies against agrin, a protein involved in nerve-muscle communication that is sometimes targeted by harmful autoantibodies in people with myasthenia gravis (MG).
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4 weeks ago | 
praderwillinews.com | Margarida Maia |Vanda Pinto |Steve Bryson |Esteban Cerezo
The U.S. Food and Drug Administration (FDA) has approved Soleno Therapeutics’ extended-release formulation of diazoxide choline (DCCR) for easing hyperphagia — marked by insatiable hunger — in Prader-Willi syndrome (PWS) patients ages 4 and older. The newly authorized oral therapy will be marketed under the brand name Vykat XR.
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4 weeks ago | 
charcot-marie-toothnews.com | Lindsey Shapiro |Young K Lee |Andrea Lobo |Vanda Pinto
Wearable sensors used in the home effectively captured data on physical function that correlated with measures of disease severity taken in the clinic for adults with Charcot-Marie-Tooth disease (CMT), data show. Such remote monitoring tools can aid in understanding how CMT affects patients in daily life, and may supplement evaluations for assessing treatment effects in clinical trials.
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1 month ago | 
rettsyndromenews.com | Marisa Wexler |Vanda Pinto |Steve Bryson
Dysfunction of an RNA molecule called NEAT1 contributes to nerve cell damage in Rett syndrome, a study suggested, implying that normalizing the activity of this molecule could be a viable treatment strategy for Rett. The study, “NEAT1-mediated regulation of proteostasis and mRNA localization impacts autophagy dysregulation in Rett syndrome,” was published in Nucleic Acids Research. It was led by researchers at the Josep Carreras Leukaemia Research Institute.
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2 months ago | 
myastheniagravisnews.com | Andrea Lobo |Mark Harrington |Vanda Pinto |Steve Bryson
People with myasthenia gravis (MG) have a higher risk of developing cancer in organs other than the thymus, particularly in the skin and gastrointestinal tract, than people without the disease, according to a study. The incidence of such cancers tended to be higher in the five years before and after an MG diagnosis, indicating the disease may “behave as a paraneoplastic disorder,” a disease that occurs in association with cancer, the researchers wrote.
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Dec 4, 2024 | 
porphyrianews.com | Andrea Lobo |Claire Richmond |Steve Bryson |Vanda Pinto
Undiagnosed hereditary hemochromatosis in a 34-year old woman played a key role in her developing porphyria cutanea tarda (PCT), according to a case report. The woman was treated with therapeutic phlebotomy, or bloodletting, to remove excess iron from the blood, which significantly eased her symptoms. Hereditary hemochromatosis is a disorder marked by iron overload, particularly in the liver.
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Oct 29, 2024 | 
parkinsonsnewstoday.com | Lindsey Shapiro |Vanda Pinto |Steve Bryson |Margarida Maia
Transplanting stem cells genetically engineered to have reduced activity of a faulty SNCA gene improved motor function and extended lifespan in a mouse model of SNCA-associated Parkinson’s disease, a study shows. “The results of this study suggest an innovative therapeutic approach that combines stem cell therapy and gene therapy for the treatment of Parkinson’s disease,” the researchers wrote.
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Sep 18, 2024 | 
cushingsdiseasenews.com | Patricia Inacio |Vanda Pinto |Margarida Maia |Marisa Wexler
Sleep quality markedly improves for people with endogenous Cushing’s syndrome after treatment leads to disease remission, but nearly half of these patients continue to experience sleep disturbances. Those are the findings of a single-center study in the U.S. that also demonstrated that the proportion of Cushing’s patients taking medications for sleep was not significantly reduced after treatment.
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Sep 18, 2024 | 
parkinsonsnewstoday.com | Steve Bryson |Vanda Pinto |Andrea Lobo |Marisa Wexler
About 1 in 5 people with Parkinson’s disease in Italy have a family history of the disorder when the analysis extends beyond first-degree relatives to second- and third-degree relatives, a large-scale study has shown. First-degree relatives are comprise parents, siblings, and children. Second-degree relatives are aunts, uncles, grandparents, grandchildren, nieces, and nephews, while third-degree kinship includes first cousins, great-grandparents, great-aunts, great-uncles, and great-grandchildren.
