James Ganier

September 13, 2013

Down Syndrome

Down Syndrome is a genetic disorder that has three,  instead of two, copies of chromosome 21. Down Syndrome is categorized by cognitive impairment. One in nine hundred infants are born with Down Syndrome. Older women are more prone to having a Down Syndrome baby than younger women.  Down Syndrome is characterized my mental retardation, abnormal physical development and abnormal facial structures. However scientists at UMass Medical School have discovered that the extra chromosome can be neutralized or silenced. This extra chromosome is responsible for trisomy 21, also referred to as Down Syndrome.

Scientists have begun a research project in an induced pluripotent stem cells originated from fibroblasts cells given by a down syndrome patient. The scientists are inserting the XIST RNA gene at a specified location in the chromosome using Zinc finger nuclease technology.  RNA, derived from the XIST gene, was effectual in repressing genes across the extra chromosome. This allowed gene expression to normal levels and successfully neutralizing or silencing the chromosome.

Neutralizing or silencing the extra chromosome, which is responsible for Down Syndrome, will allow researchers to study cell pathologies. It will also allow researchers to find genome-wide pathways involved in the disorders. The scientists will be able to focus on abnormal gene expression in cells that entail an unusual number  of chromosomes. Scientists will be better able to comprehend the basic biology of Down Syndrome and will help develop new therapies for Down Syndrome.

Works Cited:

University of Massachusetts Medical School. “ Scientists show proof-of-principle for silencing extra chromosome responsible for Down Syndrome.” Science Daily, 17. Jul. 2013. Web 13 Sep 2013.

Tortora, Gerald J and Bryan Derrickson.  Principles of Anatomy and Physiology.  Hoboken: John Wiley & Sons, Inc 2012. Print.