familial MS

In people with a family history of multiple sclerosis (MS), exclusive breastfeeding in the first months of life may reduce the risk of developing the disease later on, whereas use of cow’s milk or formula may increase MS risk. That’s according to a new study on the potential impact…

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:…

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 variation in the NLRP1 gene is associated with multiple sclerosis that runs in families, Slovenian researchers report. Their study, “Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis,” was published in the journal Scientific Reports. The research was led by Dr. Borut Peterlin of Ljubljana University Medical Center's Clinical Institute of Medical Genetics. Scientists believe MS arises from a combination of a person's genetic background and the environment. Although previous studies have suggested that genes are behind MS that runs in families, researchers had yet to confirm that hypothesis. The Slovenian team wanted to identify any genes that were at play in both the MS and malignant melanoma that two siblings had. Although disease surveys indicate the two conditions can occur together, scientists had been unable to identify a shared cause for the two conditions. Interestingly, research has shown a link between a person's susceptibility to MM and a mutation of the NLRP1 gene. And recent studies have indicated that NLRP1 plays a role in the development of MM. The Slovenian team decided to evaluate the association between an NLRP1 mutation and multiple sclerosis in two groups. One consisted of 38 people with MS whose disease ran in the family. The other was 44 people with MS whose disease did not run in their family. Researchers used genomic, molecular biology and immunology measurements to decide whether there was a link between the mutation and MS. They found a connection between the mutation and MS that runs in families. The mutation affects the function of the protein the gene generates — a protein known to be involved in inflammatory processes. Researchers also found other NLRP1 mutations in patients with and without a family history of MS that they believe could be involved in the development of the disease. In addition, the team found evidence of a connection between MS associated with NLRP1 mutations and the development of MM. That evidence involved immune responses to the two conditions. Stimulating the production of immune-system components known as peripheral blood mononuclear cells, or PBMCs, triggered immune responses in MS patients with NLRP1 mutations. The responses included increased production of the pro-inflammatory cytokine IL-1β. Higher levels of that protein have been found in MM tissue. PBMCs include such immune cells as lymphocytes, monocytes, and macrophages. "IL-1β has been implicated in a variety of inflammatory and neurodegenerative processes occurring in MS,” the researchers wrote. Overall, the findings demonstrated an association between MS running in families and MM, they said. And the genetic link between the two may be the NLRP1 gene mutation, they added. The team said scientists might be able to develop a treatment for MS by finding a way to lower the increased production of IL-1β that NLRP1 mutations trigger.

A combination of mutations in two genes makes members of a Canadian family a 7-in-10 chance of developing multiple sclerosis (MS) — a radical increase from the 1-in-1,000 risk among the general population, according to a study that illustrates the huge impact certain genes can have on disease development. Interestingly, the…

A single genetic mutation in a gene called Nr1h3, can cause familial multiple sclerosis (MS), reported scientists from the University of British Columbia and Vancouver Coastal Health. The study, “Nuclear Receptor NR1H3 in Familial Multiple Sclerosis” was published in the journal Neuron. The discovery…