In a new study in mice published in Science, researchers present CHARM, an epigenetic editor that can be used to silence prion protein throughout the brain. The tool offers a path to effective first-line treatment for patients with fatal prion diseases, as well as other neurodegenerative diseases caused by the toxic accumulation of unwanted proteins.
A family of more than 1,000 members with origins in Colombia has a mutation called "paisa" that leads to the development of Alzheimer's disease. In 2019, an added mutation in the apoE gene called "Christchurch" was described as conferring strong protection to an individual carrying two copies of it. Now, a study has found that 27 family members carry a single copy and that it is also associated with some degree of protection. According to the authors, who publish their findings in the journal NEJM, the discovery could be used to develop new treatments for the disease.
Researchers have found specific antibodies in the blood of patients years before they showed symptoms of multiple sclerosis. This group of antibodies was present in 10% of the 250 people who later developed the disease, and were part of a sample of over 10 million US military personnel. The finding could have potential for early detection of multiple sclerosis, says the research team in a paper published in Nature Medicine.
According to a study published today by The BMJ, people with dementia who are treated with antipsychotics are at increased risk of serious adverse events such as stroke, blood clots, myocardial infarction, heart failure, fractures, pneumonia, and acute kidney injury, compared with those who do not take them, . These findings extend the harms previously associated with the use of these drugs on these patients.
A monoclonal antibody called prasinezumab reduces the worsening of motor symptoms in people with Parkinson's disease who have rapidly progressive disease, according to an analysis of a phase 2 clinical trial published in Nature Medicine. These findings suggest that clinical efficacy of prasinezumab, which works by binding to alpha-synuclein protein aggregates, is seen after one year of treatment in such patients. According to the authors, more research is needed to determine whether the antibody can be effective in people with slower disease progression after longer periods of treatment.
A phase 2 clinical trial in France has examined whether taking an oral anti-diabetic drug called lixisenatide - a GLP1 receptor analogue, similar to those also used for weight loss - also has an effect on the progression of Parkinson's disease. The results indicate that there is a modest but significant decrease in the progression of motor symptoms of the disease, although side effects were also observed. The results are published in the journal NEJM.
The European Medicines Agency (EMA) has recommended granting marketing authorisation in the European Union for a new therapy for the treatment of adult patients with amyotrophic lateral sclerosis (ALS), a rare and frequently fatal disease that causes muscle weakness and leads to paralysis. Qalsody (tofersen) is indicated for the treatment of adults with ALS who have a mutation in the SOD1 gene. There is currently only one treatment for ALS authorised in the EU (riluzole).
An international team, led by a Spanish group, has published the mechanism that allows immature egg reserves (oocytes) to survive for many years, up to almost half a century in the case of humans. The research studies how oocytes are affected by protein aggregates similar to those that damage other cells such as neurons and can cause neurodegenerative diseases such as Alzheimer's disease. The finding of how these egg reserves are kept healthy may help to understand some causes of infertility. The results are published in the journal Cell.
Drugs to treat erectile dysfunction may be associated with a reduced risk of Alzheimer's disease, according to an observational study of nearly 270,000 men, published in Neurology. The research does not prove that these drugs reduce the risk of Alzheimer's, but only shows an association.
Researchers have described five cases of people in the UK who developed Alzheimer's-like dementia after being treated as children with growth hormone from cadavers. The treatment was administered between 60 and 40 years ago. This suggests that the disease could be transmitted. However, the authors point out that this is a very rare occurrence and could have been caused by repeated exposure to a type of hormone that is no longer used. The results are published in the journal Nature Medicine.