2006-07: Project Five
What’s the genetic mutation that causes retinal dysplasia in miniature schnauzers?
Drs. Lynne Sandmeyer, Bruce Grahn, George Forsyth and Bianca Bauer
WCVM scientists are continuing to investigate the genetic mutation responsible for inducing retinal dysplasia in miniature schnauzer dogs, a common inherited disorder that often causes blindness in the breed.
In preliminary studies, the WCVM team found abnormalities of mitochondrial morphology and reduced levels of a molecular marker called mitochondrial Tfam transcription factor in affected miniature schnauzers. Mitochondrial transcription factors are energy-producing proteins that control when genes are switched on or off.
The next step is to identify the genetic mutation that causes retinal dysplasia in this breed of dogs. Specifically, the researchers will examine the role of Tfam and two associated mitochondrial transcription factors in the disease’s development by using DNA sequencing of these potential candidate genes.
Finally, the team plans to apply its discovery of another molecular marker (decreased Tfam) and a morphologic marker called altered mitochondrial morphology to specific dogs of other breeds that develop retinal dysplasia. Through this stage in the study, scientists can determine whether the molecular and morphologic abnormalities identified in miniature schnauzers are unique to the breed, or if other dog breeds that suffer from retinal dysplasia have similar changes.
