Researchers have found that gene mutation is associated with the neurological disorder called hereditary neuralgic amyotrophy (also called HNA) that generally is associated with chronic pains.
HNA episodes are often triggered by an infection, an immunization, childbirth, or overworking the arms and shoulders. Nerve inflammation and changes in the blood suggest that problems with the person's immune response are contributing to the episode. The on again/off again course of the condition, and the environmental triggers, are unusual among inherited nerve disorders.
Twenty-seven medical scientists at universities in Germany, Belgium, the United States, Finland, and Spain conducted the research to find the specific gene responsible for HNA. The study appears in the latest edition of Nature Genetics.
By studying several multigenerational families who had several relatives with HNA, the researchers identified mutations in a gene named septin-9 ( known as SEPT9). Cells from a variety of life forms, ranging from yeast to fruit flies to humans, contain septins. Septins form protein filaments that provide the internal scaffolding of cells, and play key roles in the process by which cells divide. Out-of-control septins are implicated in certain abnormal cell divisions that lead to tumor formation, including breast cancer. Cells depleted of SEPT9 often fail to complete normal cell division. HNA is the first genetic disease found to be caused by a mutation in a gene of the septin family.
According to the authors of the SEPT9 gene mutations study, SEPT9 has particular structures that distinguish it from all other septins, but the significance and function of these structures is as yet unknown.