Frameshift Mutation Linked to Early-Onset Parkinson's
By Biotechdaily staff writers
Posted on 16 Jul 2003
A recent study reports the identification of a genetic sequence alteration on the DJ-1 gene that may be related to early-onset Parkinson's disease.Posted on 16 Jul 2003
Investigators at the National Institute of Aging (Bethesda, MD, USA; www.nih.gov) analyzed the DNA sequence of the DJ-1 gene in 107 patients with Parkinson's disease, 69 of whom had no family history of the disease. In one of these cases of typical Parkinson's, they discovered two separate mutations in the DJ-1 gene. This patient, who was diagnosed with probable Parkinson's disease at age 24 with asymmetric onset and an excellent response to levodopa therapy, had a frameshift mutation in the first coding exon and an exon 7 splice mutation, both predicted to result in a loss of functional protein.
"Showing that a mutation in DJ-1 can cause disease in the absence of a family history is an important point,” explained senior author Dr. Andrew Singleton, a researcher at the Laboratory of Neurogenetics of the National Institute of Aging. "A concept that many scientists as well as laypeople forget is that just because there is no family history does not mean the disease is not genetic.”
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