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First faulty gene linked to multiple sclerosis
Canadian scientists have found a mutated gene, called NR1H3, which they say can be directly connected to the development of multiple sclerosis (MS), according to research published in Neuron. About 10–15% of MS cases appear to have a hereditary component, but until now researchers conducting genetic studies have found only weak associations between the risk of developing MS and particular gene variants. In contrast, people who carry the newly discovered mutation have a 70% chance of developing the disease, the researchers found. The investigators reviewed materials from the Canadian Collaborative Project on Genetic Susceptibility to MS, a large database that contains genetic material from almost 2000 families across Canada. They looked at a family that had multiple cases of the disease – five cases over two generations – and did exome sequencing to look for rare coding mutations that were present in all family members who had the disease. After identifying a gene of interest, they went back to the database and found the same mutation in another family with multiple cases of MS. All patients in these families with the mutation presented with the progressive form of MS. The researchers said that the discovery of this mutation will enable them to develop cellular and animal models for MS that are physiologically relevant to human disease – tools that have not previously been available.
Step closer to vaccine for all cancer
Researchers from Germany and the Netherlands have reported on a nanoparticle RNA vaccine that takes advantage of the immune system’s response to viral infection and refocuses it to fight cancer. The study, published online by Nature, shows that the vaccine induces anti-tumour immune responses in mouse tumour models and three human patients with advanced melanoma, and it possibly represents a step towards a universal vaccine for cancer immunotherapy. The researchers targeted immune system cells called dendritic cells in mice by using an intravenously administered vaccine made up of RNA-lipoplex nanoparticles — RNA surrounded by a lipid (fatty acid) membrane, similar to a cell membrane. They found that adjusting the net electrical charge of the nanoparticles to be slightly negative was enough to efficiently target dendritic cells. The lipoplex protected the RNA from being broken down by the body and mediated its uptake into dendritic cells and macrophages in the spleen, lymph nodes and bone marrow, where the RNA was then translated into a cancer-specific antigen. In preliminary results from a human Phase I dose escalation trial of the vaccine, the authors showed that three melanoma patients treated at a low-dose level experienced strong interferon-α and antigen-specific T-cell responses. They concluded that, because almost any protein-based antigen can be encoded by RNA, the nanoparticle vaccine may potentially qualify as a universal vaccine for cancer immunotherapy.
Ritalin linked to higher heart disease risk
Hyperactivity drug methylphenidate, marketed most commonly as Ritalin, has been linked to an increased risk of heart rhythm problems, according to research published in The BMJ. The researchers from Australia, Canada and South Korea found that the drug, frequently used for attention deficit hyperactivity disorder, is associated with an increased risk of abnormal heart rhythm in children and young people shortly after the start of treatment. They examined 1224 patients in the South Korea National Health Insurance Database aged 17 or under who had also experienced an “incident cardiovascular event”. This included 864 patients with arrhythmias, 396 with hypertension, 52 with myocardial infarctions, 67 with stroke and 44 with heart failure. Cases of arrhythmia were 61% more likely to have occurred during the first 2 months of use compared with periods of non-use. Risk was even higher in the first 3 days of use. For more on this story visit doctorportal.
Migraine and cardiovascular disease events linked in women
Women who experience migraines are also more likely to suffer from major heart problems, according to research published in The BMJ. Researchers from Germany and the United States examined data on more than 110 000 nurses taking part in the American Nurses’ Health Study. Of these almost 18 000 were reported to suffer migraines when they were initially examined. Over 20 years of follow-up, the authors noted 1329 major cardiovascular disease events and 223 women died from cardiovascular disease. Those who reported migraine problems had a 50% increased risk of cardiovascular events, such as heart attacks and strokes, compared to those who didn’t suffer from migraines. They were also found to be more likely to die from these conditions. For more on this story visit doctorportal.