A study done on Manitoba children affected by a rare malformation has led to the identification of a specific gene that causes hearing loss and other problems in developing brains.
The finding was announced today by Dr. Albert Chudley, medical director of the genetics and metabolism program, a member of the Manitoba Institute of Child Health (MICH) and a professor in paediatrics and child health at the University of Manitoba. In a paper published in the American Journal of Human Genetics, Chudley notes that a particular gene, GPSM2, is responsible for profound hearing loss and brain malformations during children’s development, caused by asymmetric cell divisions as a fetus takes shape.
Chudley and his colleagues first described the condition, now known as Chudley-McCullough Syndrome, and published a paper about it in 1997. He says: “Since that initial report there have been several reports of this condition worldwide. This condition may be more common than we thought initially, and this discovery will allow more accurate diagnosis and earlier detection of hearing loss in children affected.”
Chudley and colleagues at MICH and the U of M worked with a large international team of researchers to better understand what was creating the malformations in children.
He explains: “This is the first time that changes in the GPSM2 gene have been implicated in the cause of a variety of brain malformations in humans. We stand to gain important information on brain development and the cause of a variety of brain malformations previously without a known cause.”
The research team will continue to work with University of Manitoba researchers on this condition and collaborate with Geoff Hicks, U of M associate professor of biochemistry, medical genetics, and cell biology. They hope to establish a mouse model of this disorder which will allow better understanding of this gene and the possibility of discovering perhaps how best to treat or prevent the complications in this condition.
As for having a medical condition named for him, Chudley notes: “Having a syndrome named after you is something a lot of geneticists take pride in. Here in Manitoba, we took part in discovering the gene and the reasons it causes the syndrome. This reflects the fact that we have great medical care and research in Manitoba.”
He adds: “Finding the gene is important?this gene has never been associated with brain abnormalities before and this discovery may be a clue to other brain abnormities at birth. It could even lead to the possibility of prevention and treatment of Chudley-McCullough Syndrome in the future.”
For more information, please contact:
Dr. Ab Chudley at: 204-787-4370 or cell: 204-451-2483, or email: achudley@hsc.mb.ca
Or contact:
Sarah Delaquis, communications coordinator, Manitoba Institute of Child Health, at: 204-272–3135 or cell: 204-227-1438, or email: sdelaquis@mich.ca
