genetics

Dutch Amarna Therapeutics announced a research collaboration with Spanish Progreso y Salud Foundation (FPS) to investigate the efficacy of its gene therapy delivery technology in multiple sclerosis (MS) and diabetes. MS is thought to be caused by immune-mediated inflammation that damages myelin — an insulating sheath around nerve…

A comparison of immune cells isolated from identical twins — in which only one of each pair was diagnosed with multiple sclerosis (MS) — identified a population of immune-regulating T-cells present in those with asymptomatic brain inflammation, a study has found. …

Genetic variants may contribute to increased levels of antibodies against proteins of the Epstein-Barr virus — a known environmental risk factor for multiple sclerosis (MS) — in MS patients and their siblings, a study suggests. The study, “EBNA-1 titer gradient in families with multiple sclerosis indicates a…

A variant of the HLA-DPB1 gene — called HLA-DPB1*04 — appears to protect people from developing multiple sclerosis (MS) either in childhood or as adults, a study from Greece suggests.

A high genetic risk for multiple sclerosis (MS) is associated with structural alterations in white matter — brain regions composed mainly of nerve fibers — in childhood, findings from a large study show. Brain volume, however, was not affected by genetic risk in the more than 2,000 children whose…

A variant of the HLA-DRB1 gene — called HLA-DRB1*03 — appears to predispose people to developing multiple sclerosis (MS) in childhood, and to correlate with greater disease activity among those who do, a study in Greek patients suggests. The research also points to a protective role of one other variant of this…

The small variants seen in the DNA code among individuals may affect the ability of oligodendrocytes to produce myelin, the protective coat surrounding neurons and whose destruction is a hallmark of multiple sclerosis (MS), a study reported. These findings open the possibility of new therapeutic options that target the…

Specific mutations in genes that provide instructions to make two proteins —  called C3 and C1q — are linked to increased severity of multiple sclerosis (MS), according to new research. The new finding will be presented by Johns Hopkins University School of Medicine researcher Peter Calabresi, MD, during…

Interaction between various Epstein-Barr virus traits and the composition of certain genes affects the risk of developing multiple sclerosis (MS), a study reports. The study, “The interaction of Multiple Sclerosis risk loci with Epstein-Barr virus phenotypes implicates the virus in pathogenesis,” was published in the journal…

Genetic variations that increase body mass index (BMI) in childhood are associated with a higher risk of multiple sclerosis (MS) regardless of a person’s vitamin D levels, a study found. The study, “BMI and low vitamin D are causal factors for multiple sclerosis,” was published in…

Early research in animal models and human samples reveals how loss of communication between nerve cells contributes to the symptoms of multiple sclerosis (MS), and shows how gene therapy could be used to preserve such connections and protect against vision loss. Researchers say their work identifies a…

A risk of multiple sclerosis rises in people with specific variations in a protein, called the vitamin D receptor, that affects how this vitamin works and is metabolized in the body, a study drawn from a meta-analysis reports. Its researchers suggest these variations, or changes…

A common mutation in the fat-mass obesity (FTO) gene is associated with obesity and increased disability in people with multiple sclerosis (MS), according to a Kuwaiti study. The data, which showed no link between this mutation and an increased risk of MS, highlights the need for more studies about…

A cluster of immune-related genes located in the X chromosome are more active in the X chromosome inherited from the mother than in the one from the father, a new mouse study shows. These findings may help explain why women have higher rates of autoimmune diseases, such as multiple…

A specific mutation in the FOXP3 gene, one already linked to multiple sclerosis in the Iranian population, was now also seen to increase the risk of MS in Brazilian women, a study reports. This mutation is also associated with higher-than-normal levels of TGF-β1, an anti-inflammatory molecule, a finding that requires…

Mutations in genes related to the immune system’s first line of defense are associated with a greater likelihood of more severe forms of multiple sclerosis (MS) linked to faster vision loss, a team led by Johns Hopkins Medicine researchers report. Combining high-resolution eye scans and genetic tests,…

Higher Intellectual Ability, Early-life Physical Activity May Protect Against Cognitive Impairment in MS, Study Suggests The finding that physical activity provides a protective effect for cognitive abilities makes sense to me. I recently listened to a webinar discussing brain atrophy, which has a direct relationship with cognitive impairment, and…

A genetic variant in the galanin gene (GAL) appears to be a risk factor for more severe multiple sclerosis (MS), nearly doubling the risk of rapidly progressive disease, particularly in patients whose disease onset occurs…

A new large-scale genetic map implicates broad immune system dysfunction in patients with multiple sclerosis (MS), suggests a key role of brain immune cells called microglia, and indicates an MS-related gene variant located in the X chromosome. Altogether, the findings — the result of the largest reported study…

A specific type of immune cell in a particular activation state is linked to such immune diseases as multiple sclerosis (MS) and inflammatory bowel disease (IBD), a collaborative research study found. Disease-associated genetic variants — changes in DNA sequences or mutations in genes — can affect the response of immune…

Females of certain species — like humans and mice — have a known ability to produce more of the gene Kdm6a than males because it’s located on the X chromosome, of which females have two. Kdm6a is also quite active in immune system T-cells, a study found, and silencing it in a mice model…

An amino acid change to phenylalanine, and a specific class I HLA gene variant are associated with greater risk for multiple sclerosis (MS), according to a study in Japanese patients. Researchers also identified an HLA variant, or mutation, associated with neuromyelitis optica spectrum disorder (NMOSD), an autoimmune condition…

The percentage of Taiwanese who develop multiple sclerosis (MS) after an episode of clinically isolated syndrome (CIS) is lower than that reported for other ethnicities, and those who do progress are likely to have a milder disease course, a study found, supporting how factors like geography and genetics…

Patients with multiple sclerosis (MS) have more genetic variants of genes that regulate the pro-inflammatory signals of protein complexes called inflammasomes, according to new research. The findings support the importance of inflammasomes, which play an important role in the innate immune system, in the development of MS. The study,…

DELIVER-MS Trial Recruiting RRMS Patients to Help Improve Treatment Decision-making What’s the best way to attack multiple sclerosis when it’s first diagnosed? Do you hit it hard and fast using the most effective disease-modifying therapy (DMT), or do you start with a lower efficacy DMT and slowly ramp up?…

Scientists are zeroing in on mutations in a few genes that appear to be major risk factors for developing multiple sclerosis (MS). The results of their research suggest there are common biological pathways that cause the disease. The study, “Exome sequencing in multiple sclerosis families identifies 12…

A study found no genetic risk factors associated with vitamin D in families with a history of multiple sclerosis (MS), suggesting that the link between vitamin D deficiency and MS risk is determined by environmental factors rather than a genetic predisposition. The study “Exonic variants of genes related…

A collaboration between DNAnexus, the Sutter Health network, and the University Pittsburgh Medical Center (UPMC) aims to improve personalized medicine in multiple sclerosis (MS) through the first large-scale clinical genomic research study, the companies announced. The network has the goal of improving screening, diagnosis, and treatment of…

A tiny molecule known as microRNA-142 plays a key role in the prevention of autoimmune responses through immune cells called regulatory T-cells (Tregs), according to a new study of  mice. These findings could enable new strategies to treat multiple sclerosis (MS) and other autoimmune diseases, the scientists said. The…

Genetic variants that enhance the activity of the NLRP3 inflammasome or the interleukin-1 beta cytokine are linked to higher severity and progression of multiple sclerosis, a study suggests. Previous studies with mouse models of MS have shown that a complex of innate immune system receptors and sensors, known as the inflammasome, is likely a player promoting the immune system’s attack on the central nervous system in MS and, consequently, the loss of myelin. Follow-up studies showed that people carrying mutations that enhance the function of the NLRP3 inflammasome — one of the three components of the inflammasome complex — had a worse prognosis, once again supporting the role of the inflammasome in MS. Once activated, the inflammasome triggers an enzyme called caspase-1 that promotes the production of two very powerful proinflammatory cytokines called interleukin (IL)-1 beta and IL-18. To further evaluate the role of the inflammasome in MS, a team led by researchers at the Universidade de Sao Paulo in Brazil analyzed the genetic sequence of five inflammasome genes — NLRP1, NLRP3, NLRC4, IL-1 beta, and IL-18 — in blood samples retrieved from 264 patients diagnosed with MS or other demyelinating diseases. They also analyzed 233 healthy individuals used as controls. The team specifically looked at eight variations in certain nucleotides (the building blocks of DNA), called single nucleotide polymorphisms (SNPs). Previous studies reported a link between SNPs in inflammasome-related genes and certain forms of MS. Results showed that SNPs associated with low serum levels of IL-18 were significantly less frequent in MS patients than in controls. In contrast, variants that enhance the function of NLRP3 and IL-1 beta were associated with severity and progression of MS, as measured by the Expanded Disability Status Scale. These results suggest that the "activation of NLRP3 inflammasome could represent a risk factor for MS clinical presentation,” the researchers wrote. A particular variant in the NLRC4 gene was less frequent in patients whose disease progressed rapidly compared with those who had a slower disease, an intriguing observation, according to researchers, suggestive of a “protection effect of this variant against a bad prognosis.” Carriers of this variant also responded better to treatment with interferon-beta. Regarding MS type, the genetic variant that promotes the function of the IL-1 beta gene was significantly more frequent in progressive forms of MS than in relapsing-remitting MS, strengthening once again the negative effects of IL-1 beta in the disease. An analysis of inflammasome activity in blood monocytes, a group of immune cells, showed that the inflammasome is permanently activated in MS compared with healthy controls. "This study emphasizes that a constitutive activation of NLRP3 inflammasome, principally through IL-1 beta production, represents a risk factor for both the development of MS and the progression to severe forms of the disease. On the other hand, low IL-18 production and/or NLRC4 activation were beneficial for MS patients,” the team concluded.