genetics

Start2Cure Foundation is funding a research project that will investigate the potential of a gene therapy approach to treat multiple sclerosis (MS). MS is an autoimmune disease characterized by the damage and loss of myelin — the protective layer around nerve fibers, or axons, that is crucial to the…

Using a two-pronged approach, researchers were able to restore myelin on regenerated nerve fibers in a mouse model of optic nerve injury, which has implications for multiple sclerosis (MS) and other diseases associated with myelin loss, a study reported. The study, “…

A newly identified population of immune cells contributes to inflammation in multiple sclerosis (MS), a new study suggests. The study, “A distinct GM-CSF+ T helper cell subset requires T-bet to adopt a TH1 phenotype and promote neuroinflammation,” was published in Science Immunology. MS is an…

The HLA-DR15 haplotype — a set of gene variants that tend to be inherited together — in the HLA-DRB1 gene plays a role in autoimmune response and, in combination with environmental factors, contributes to the development of multiple sclerosis (MS), a study suggests. The study, “…

Two genetic variants have been identified by researchers within a genome region previously reported to drive a 1.44-times increased risk of multiple sclerosis (MS) in a group of African Americans with European ancestry. Located in genes involved in immune responses, the variants fully explain the reported European ancestry-associated increased…

The presence of a particular gut bacterium widely used in probiotics, called Lactobacillus reuteri (L. reuteri), was sufficient to increase disease severity in a mouse model of multiple sclerosis (MS), but only in genetically susceptible animals, a recent study shows. These findings highlight the complex interactions between…

A genetic variant may make depression more likely in certain people with multiple sclerosis (MS) than others, a genome-wide study in patients indicates. The study, “Depression in multiple sclerosis patients associated with risk variant near NEGR1,” was published in Multiple Sclerosis and Related Disorders. Depression is characterized by…

A pathway controlled by three proteins — Daam2, Nedd4, and VHL — was identified by researchers as a key regulator of myelin production during central nervous system development and regeneration after injury. Myelin, the protective fatty layer that covers nerve fibers and helps to speed transmission of signals between nerve cells,…

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…

Before signs of neurodegeneration in the brain and spinal cord are evident in mice with experimental autoimmune encephalomyelitis (EAE) — which resembles human multiple sclerosis (MS) — signs can first be found in the network of nerves innervating the gastrointestinal (GI) tract, a study reports. Additional research is needed…

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 new research project will seek to understand the development of immune cells that drive autoimmune diseases such as multiple sclerosis (MS). The project will be led by Leszek Ignatowicz, PhD, a professor in the Institute for Biomedical Sciences at Georgia State University, and will be funded by…

The lack of a “chaperone” protein — called HLA-DO — that helps to protect the body against threats by presenting specific molecules (antigens) to immune cells to drive a response, promoted the development of a self-reactive immune system and autoimmune disease, according to a study in mice. Particularly, the work showed…

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…

People with multiple sclerosis (MS) who self-identify black African or Latin American have a higher number of disease-associated antibody-secreting cells in their blood compared to those who identify as Caucasian, a U.S. study reports.  This difference may account for disparities related to ethnicity in MS…

Harvard professor and scientist Francisco Quintana, PhD, has been awarded the 2019 Barancik Prize for Innovation in MS Research for his work in understanding what causes multiple sclerosis (MS), and how to stop its development. Quintana has developed innovative research programs that use cutting-edge technology to help…

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…

Nerve impulses travel in a “dual cable” with myelin, playing additional roles to what was previously thought, new research has found. This discovery advances human knowledge of how brain connections work, and may help scientists understand more accurately what happens when myelin is lost — which is what occurs…

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,…