This web page was produced as an assignment for Genetics 677, an undergraduate course at UW-Madison.
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development
The Journal of Human Molecular Genetics. 19(2), 342. doi: 10.1093/hmg/ddp500
By: Betts-Henderson J., Bartesaghi, S., Crosier, M., Lindsay, S., Chen, H., Salomoni, P., Gottlob, I., Nicotera P.
By: Betts-Henderson J., Bartesaghi, S., Crosier, M., Lindsay, S., Chen, H., Salomoni, P., Gottlob, I., Nicotera P.
For a link to the full online text, click here.
Congenital nystagmus is a condition that causes involuntary eye movement in 24 people per 10,000 worldwide. While some cases are fairly mild, nystagmus can cause decreased vision, abnormal head posture and other eye problems. There currently is no curative treatment for nystagmus. This condition is very unique because it occurs independently of other eye disorders where involuntary eye movement is a side effect, such as albinism. This suggests the primary problem lies in the part of the brain responsible for eye movement control. Scientists have traced the defect back to a specific gene on the X chromosome, FRMD7.
Until recently, the role of the FRMD7 gene and protein were not very well understood. Scientists knew that a problem within the gene, a mutation, caused nystagmus, but they just had yet to explore what exactly the roles of normal FRMD7 were in the cell. Betts-Henderson and colleagues used both mouse and human tissue cultures to explore the role of FRMD7 in healthy cells. What they found was during early stages of human embryo development, FRMD7 messenger RNA (mRNA) is present in the cerebral cortex, which is eventually responsible for ocular movement. The mRNA expression was consistent with FRMD7 protein expression in mouse cerebral cortex development as well.
Overall, this study suggests that FRMD7 protein plays an important role in neuron development, specifically in the part of the brain responsible for eye movement. These findings are consistent with previous studies that show a mutation in FRMD7 was consistent with congenital nystagmus in families.
Until recently, the role of the FRMD7 gene and protein were not very well understood. Scientists knew that a problem within the gene, a mutation, caused nystagmus, but they just had yet to explore what exactly the roles of normal FRMD7 were in the cell. Betts-Henderson and colleagues used both mouse and human tissue cultures to explore the role of FRMD7 in healthy cells. What they found was during early stages of human embryo development, FRMD7 messenger RNA (mRNA) is present in the cerebral cortex, which is eventually responsible for ocular movement. The mRNA expression was consistent with FRMD7 protein expression in mouse cerebral cortex development as well.
Overall, this study suggests that FRMD7 protein plays an important role in neuron development, specifically in the part of the brain responsible for eye movement. These findings are consistent with previous studies that show a mutation in FRMD7 was consistent with congenital nystagmus in families.
Site created by: Kristen Klimo
Last updated: 5/11/2012
University of Wisconsin-Madison
Last updated: 5/11/2012
University of Wisconsin-Madison