Analysis of DNA samples from patients with obsessive compulsive disorder (OCD) and related illnesses suggests that these neuropsychiatric disorders affecting mood and behavior are associated with an uncommon mutant, malfunctioning gene that leads to faulty transporter function and regulation. Norio Ozaki, M.D., Ph.D., and colleagues in the collaborative study explain their findings in the October 23 Molecular Psychiatry.
Researchers funded by the National Institutes of Health have found a mutation in the human serotonin transporter gene, hSERT, in unrelated families with OCD. A second variant in the same gene of some patients with this mutation suggests a genetic "double hit," resulting in greater biochemical effects and more severe symptoms. Among the 10 leading causes of disability worldwide, OCD is a mental illness characterized by repetitive unwanted thoughts and behaviors that impair daily life.
"In all of molecular medicine, there are few known instances where two variants within one gene have been found to alter the expression and regulation of the gene in a way that appears associated with symptoms of a disorder," said co-author Dennis Murphy, M.D., National Institute of Mental Health (NIMH) Laboratory of Clinical Science. "This step forward gives us a glimpse of the complications ahead in studying the genetic complexity of neuropsychiatric disorders."
Constance Burr | EurekAlert!
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