Scientists have identified a new genetic form of amyotrophic lateral sclerosis in children, according to research published in Nature Medicine.
An international research team led by scientists at the National Institutes of Health and Bethesda, Md.-based Uniformed Services University studied 11 patients who were affected by ALS during childhood.
Unlike most cases of ALS, the patients developed the disease during childhood. The disease progressed more slowly than usual, and was linked to the gene SPTLC1, which is part of the body's fat production system.
The team worked with scientists at Switzerland-based University of Zurich and found clues as to how variations in the gene lead to ALS and developed a strategy for counteracting the problem. When examining the DNA of the patients, the researchers found four of the patients inherited the changes from a parent. Meanwhile, the other six cases appeared to be the result of de novo mutations in the gene. These types of mutations can spontaneously occur as cells rapidly multiply before or shortly after conception.
"These preliminary results suggest that we may be able to use a precision gene silencing strategy to treat patients with this type of ALS," Carsten Bönnemann, MD, senior investigator at the NIH's National Institute of Neurological Disorders and Stroke and a senior author of the study, said in a June 1 news release. "Our ultimate goal is to translate these ideas into effective treatments for our patients who currently have no therapeutic options."