Create Account | Sign In: Author or Forum

Search Symptoms

Category: Neurology | Pathology | Psychiatry | Journal

Back to Journal Articles

Mutation Linked to Tourette’s Identified in Family

Last Updated: May 05, 2010.

A genetic mutation resulting in abnormal histamine biosynthesis has been identified in a father and his offspring, all of whom have Tourette's syndrome, pointing to a role for histaminergic neurotransmission in the modulation and mechanism of Tourette's, according to research published online May 5 in the New England Journal of Medicine.

WEDNESDAY, May 5 (HealthDay News) -- A genetic mutation resulting in abnormal histamine biosynthesis has been identified in a father and his offspring, all of whom have Tourette's syndrome, pointing to a role for histaminergic neurotransmission in the modulation and mechanism of Tourette's, according to research published online May 5 in the New England Journal of Medicine.

A. Gulhan Ercan-Sencicek, Ph.D., of the Yale University School of Medicine in New Haven, Conn., and colleagues conducted an analysis of the genetic linkage of a two-generation pedigree in which the father and all eight children have Tourette's syndrome. Genetic analysis of a large control group of chromosomes from people of an ethnically similar background as the study family (European) was also done.

The researchers note that polymerase chain reaction assay and gene sequencing revealed a mutation resulting in a premature termination codon (W317X) on the HDC gene encoding L-histidine decarboxylase, which is the rate-limiting enzyme in histamine biosynthesis. This mutation was seen in the father and all affected offspring, but not in the unaffected mother of the offspring. None of the control chromosomes expressed this mutation. The sum of the data suggested that this mutation is extremely rare in the population, and loss-of-function alleles at that site would be uncommon.

"The convergence of our findings with data from mouse models and the presence of therapeutic agents that would be expected to moderate deficits in histaminergic neurotransmission suggest an approach to treatment that may prove relevant not just to our rare kindred but also to others with Tourette's syndrome," the authors write.

One of the authors is on the Scientific Advisory Board of Merck, and another has financial ties to Centocor.

Abstract
Full Text


Previous: Bar-Code Technology Reduces Medication Errors in Hospitals Next: Seminar Addresses State of Childhood Obesity

Reader comments on this article are listed below. Review our comments policy.


Submit your opinion: