Genetic Abnormality – Its identification opens a line of treatment that can be homologated to other neurological diseases.
Researchers at the University of Miami Miller School of Medicine, McGill University, and other institutions have discovered that a genetic variation in the FGF14 gene, called DNA tandem repeat expansion, causes a common form of late-onset cerebellar ataxia. A brain disorder that interferes with coordinated movement.
Tandem repeat expansions are found in only 50 conditions, including Friedreich’s ataxia and Huntington’s disease, but scientists believe they could explain many other conditions.
The expansion of late-onset ataxia was found in the FGF14 gene, which is associated with cell growth, tissue repair, and other tasks. Although this gene is well studied, no one has ever seen these repeat expansions, mainly due to how RNA is processed in cells.
RNA can be divided into two categories: exons and introns. Exons code for proteins; introns contain noncoding RNA between exons. Because introns are detached from the coding RNA strand, it can be challenging to determine how intronic sequences affect protein production.
The study sequenced entire genomes of French-Canadian, German, Australian, and Indian families, using a computer algorithm to identify repeat expansions.
Identifying the genetic cause of the disease will provide scientists and physicians with an essential tool to diagnose more patients. Current research has uncovered more than 500 families with the variant, and follow-up studies could push that number to over 1,000. Repeat expansions in FGF14 may be the most common form of late-onset ataxia.
In addition, it will allow the development of new diagnostic tests, animal models, and, over time, therapies to combat it. Patients could also benefit from a drug called 4-aminopyridine, which is already used to treat other neurological conditions.