Researchers discover novel form of the Rett Syndrome protein

March 21, 2004 Research spearheaded by investigators from The Hospital for Sick Children and the University of Toronto has uncovered a new form of the protein MeCP2 that is ten times more prevalent in adult human brain then the originally described form. The findings will be reported in the April issue of the scientific journal Nature Genetics (available online March 21, 2004).

In 1999 Huda Zoghbi of Baylor College of Medicine identified mutations in the MECP2 gene as the leading cause of Rett Syndrome (RTT). The MECP2 gene can be envisioned as a book with four chapters, called exons. By splicing these exons into different configurations genes can make alternate forms of a protein. The novel form of the MeCP2 protein shares exons three and four with the original form but is missing exon two. Furthermore, the Canadian researchers report the first identified mutations in exon one.

Berge Minassian, the lead author from The Hospital for Sick Children, states, "The human genome has been sequenced completely, yet to our ongoing amazement, the genetic information that defines who we are is much more complex than the mere DNA sequence. We are finding that many, if not most genes shuffle their sequences around to create various proteins with unique functions. We have discovered a new form of the MeCP2 protein which may turn out to be the more important form in RTT. This opens a whole new avenue of RTT research. One day, this and other similar paths will lead us to a full understanding, and hopefully a treatment for this devastating disorder."

RTT is a severe neurological disorder diagnosed almost exclusively in girls. Children with RTT appear to develop normally until 6 to 18 months of age, when they enter a period of regression, losing speech and motor skills. Most develop repetitive hand movements, irregular breathing patterns, seizures and extreme motor control problems. RTT leaves its victims profoundly disabled, requiring maximum assistan

Contact: Monica Coenraads
Rett Syndrome Research Foundation

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