Hope for Hutterites frequently affected by Bowen-Conradi Syndrome

Scientists at the University of Manitoba and Manitoba Institute of Child Health have discovered that a small change in a gene (EMG1) that is involved in cell growth is the cause of Bowen-Conradi Syndrome (BCS). Their findings were published in the online edition of the American Journal of Human Genetics and will be published in the print edition next month.

BCS is an inherited disorder that affects children, preventing them from growing and developing. Affected children typically die at birth or in early childhood. It occurs quite frequently among Hutterites of the Canadian Prairies and U.S. Great Plains. Knowing the genetic cause of this disorder is very important to this population as it provides a clear tool for diagnosing the condition and at the same time offers hope for a treatment in the future.

The Manitoba-led multidisciplinary group was made up of researchers in the Departments of Biochemistry and Medical Genetics, Microbiology, Pediatrics & Child Health, Physiology and the Centre for Investigation of Genetic Disease at the Manitoba Institute of Child Health. The research also included an international team from the Excellence Center at the Institute for Molecular Biosciences, Johann Wolfgang Goethe University in Frankfurt, Germany. Their team had been working with the same gene in yeast, where it was found that if it wasn’t present the yeast would die. This work hinted at the importance of the gene and encouraged the Manitoba team to move forward with their studies of the equivalent human gene.

The team in Manitoba localized the gene to human chromosome 12 in 2006. They have searched through a region containing 59 genes on this chromosome, spanning a region of approximately 2 million nucleotides, to find the one change that causes Bowen Conradi Syndrome.

“Identifying the gene was like searching for a needle in a haystack. Although we knew approximately where to look in the haystack, the needle was camouflaged to look like the surrounding hay,” said Dr.Barbara Triggs-Raine. “The experiments we performed to make sure that we had the needle, and not the hay, were what showed EMG1 to be the right gene.”

Start-up funding from the Manitoba Institute of Child Health and subsequent funding from the Canadian Institutes of Health Research and the Winnipeg Rh Institute Foundation, together with strong cooperation from the local Hutterite community, were central to the success of the research team.

The gene that is affected is involved in making ribosomes, large molecules essential for making proteins that are required for cells to grow. Genes involved in synthesizing ribosomes have been identified to be defective in several genetic disorders such as Shwachman-Diamond Syndrome and Diamond-Blackfan Anemia.

The Manitoba Institute of Child Health is the research division of The Children’s Hospital Foundation. The Institute is dedicated to excellence in pediatric research. At the Institute, more than 220 world-class pediatric medical researchers, technical staff, students and support staff are involved in over $8 million of research and clinical trial activities each year.

(Winnipeg, Manitoba – May 27, 2009)