genetics

Using stem cells derived from people with multiple sclerosis (MS), researchers developed cerebral organoids, or “mini-brains,” to better study the cellular and molecular mechanisms leading to the neurodegenerative disorder. Initial analysis showed that patient-derived stem cells, especially those from people with primary progressive MS (PPMS), tend to be…

Higher activity of the genes SHMT1, FAM120B, and ICA1L in the brain may increase the risk of developing multiple sclerosis (MS), a new study reports that for the first time linked two of the genes to risk for the disease. The findings may help to better understand the biological…

Genetic variations in certain genes may increase the risk of developing progressive multifocal leukoencephalopathy (PML), a serious brain infection associated with certain treatments for multiple sclerosis (MS) and other conditions, a new study shows. The findings suggest that testing for four specific genetic variant could help to predict…

A machine learning algorithm that incorporates genetic data alongside clinical and demographic information may be able to more accurately predict the severity of multiple sclerosis (MS), according to a new study. “Once independently validated, the machine learning algorithm could enable clinicians to provide patients with more accurate prognostic information,…

Genetic variants in genes mostly active in the brain and spinal cord — the central nervous system — are associated with the severity of multiple sclerosis (MS), and linked to a faster accrual of disability and greater signs of brain tissue damage, a new study found. Importantly, researchers estimated…

Variations in more than a dozen genes on the sex-determining X chromosome are more common among those with multiple sclerosis (MS) than in the general population, according to an analysis of nearly 500,000 people in the U.K. Many of these genes are known to play roles in biological processes…

A number of genetic variations related to vitamin D metabolism were not significantly associated with the severity of multiple sclerosis (MS), according to a recent study. The study, “Role of Multiple Vitamin D-Related Polymorphisms in Multiple Sclerosis Severity: Preliminary Findings,” was published in Genes. In MS, the body’s immune…

Higher numbers of immune cells circulating in the bloodstream may mean a greater likelihood of developing multiple sclerosis (MS), according to a study based on a large pool of genetic data in people of European ancestry. One particular type of immune cell, called natural killer (NK) cells, was linked…

Genetic variants that contribute to a high body mass index (BMI) during childhood are associated with an increased risk of developing multiple sclerosis (MS), a study found. The relationship is likely influenced by the fact that a higher BMI in childhood is linked to obesity in adulthood and a “longer…

Infection with the herpes simplex virus does not increase the risk of multiple sclerosis (MS), according to a new analysis based on genetic data. The study, “Mendelian Randomization Analysis Suggests No Associations of Herpes Simplex Virus Infections With Multiple Sclerosis,” was published in Frontiers in…

A risk variant in the BDNF gene is tied to increased brain inflammation and reduced cortical thickness on MRI scans in people newly diagnosed with relapsing-remitting multiple sclerosis (RRMS), a recent study found. “We report for the first time an association between the BDNF [genetic variant] and central inflammation…

An increased production of CD25 – an immune receptor that regulates T-cell proliferation and activation – is the most noticeable blood cell immune alteration in people with multiple sclerosis (MS) compared with their unaffected identical twins, a study discovered. The increased CD25 levels, which correlated with disease severity, were…

Changes in the genome of oligodendrocytes were found in DNA regions associated with immune genes and risk mutations linked to multiple sclerosis (MS), a study shows. The changes identified make it possible for these immune genes and MS-associated regions to have an altered expression — meaning being…

KAT7, an enzyme known to regulate gene activity, is essential for the process of teaching immune T-cells to correctly identify the body’s molecules and cells as ‘self’ — a process that goes awry in multiple sclerosis (MS) and other autoimmune diseases. This enzyme is also critical for training T-cells…

People with a higher genetic risk for multiple sclerosis (MS) are significantly more likely to develop the disease at an earlier age, a large study found. Specifically, those with the highest genetic risk were on average five years younger at the time their symptoms started than those with the…

A nuclear protein called heterogeneous nuclear ribonucleoprotein A1 or hnRNP A1 — abnormally found outside the nucleus in people with neurodegenerative diseases such as multiple sclerosis (MS) — is essential for nerve cell function and survival. Those are the findings of a new study, by Canadian researchers, of nerve…

A new research project, funded by the National Institutes of Health (NIH), aims to better understand how different types of cells in the nervous system — specifically neurons and glia cells — communicate with each other and ultimately affect both motor and non-motor functions. Its findings may have important implications…

A variation in a gene called STK11, previously shown to increase the risk for multiple sclerosis (MS) among Caucasians, is now also linked to a greater likelihood of MS in Black people. In fact, the variation was significantly more common in Black MS patients with secondary progressive MS (SPMS),…

Skin Reactions ‘Frequent’ With Mavenclad, Real-world Study Finds I regularly see people posting on social media about having a rash or itchy skin, or losing hair while taking Mavenclad. Researchers in this study say these side effects aren’t mentioned in the risk management plans for this disease-modifying therapy. Therefore,…

Genetic susceptibility to multiple sclerosis (MS) depends on an individual’s particular combination of multiple risk variants, a study reveals. The study, “Genetic susceptibility to multiple sclerosis: interactions between conserved extended haplotypes of the MHC and other susceptibility regions,” was published in the journal BMC Medical…

Inherited or familial multiple sclerosis (MS) occurs most frequently in children, women, and people living in warmer climates, a new study suggests. Prevalence rates also differ according to geographical areas, with Canada exhibiting the highest rates and Hungary the lowest. The study, “The global prevalence of familial multiple sclerosis:…

The 2021 John Dystel Prize for multiple sclerosis (MS) research has been awarded to Vijay Kuchroo, PhD, a professor at Harvard Medical School, in Boston, for his work in uncovering the underlying immune mechanisms that drive the neurodegenerative disorder.  “Professor Kuchroo’s…

A genetic variant in the WNT9B gene and vitamin D response are both associated with a greater risk of relapses in people with multiple sclerosis (MS), a recent study in Belgium has found. The study, “Genetic variation in WNT9B increases relapse hazard in multiple sclerosis,” was published in the journal…

A gene called Mertk has important roles in the repair of myelin, the fatty substance that surrounds and protects neurons and that is lost in multiple sclerosis (MS). The findings were published in Cell Press, in the study “Multiple sclerosis risk gene Mertk is required for…

Scientists have discovered epigenetic changes in a gene called HTR2A, found only in immune cells isolated from people with secondary progressive multiple sclerosis (SPMS), a study reported.  These findings suggest that such changes — external modifications to DNA that turn genes…

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…

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…