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Advances in Human
Genetics
October 2005
Genetics and Dyslexia
Dyslexia is a common reading disability that affects 5-17% of the
population. Studies have shown that those who have a family history of
dyslexia have an increased chance of also having dyslexia. A press release
by Yale University in October 2005, describes how researchers there
identified a genetic alteration in the DCDC2 gene that they believe
contributes to dyslexia. Dr. Jeffrey Gruen, stated that his team believes
that alterations in this gene may be responsible for up to 20% of dyslexic
cases. Dr. Gruen, Dr. H. Meng and their colleagues published their findings
in the November 22, 2005 issue of Proceedings of the National Academy of
Sciences.
References
Meng, H.; Smith, S.D., Hager, K., Held, M., Liu, J., Olson, R.K., et al.
(2005). DCDC2 is associated with reading disability and modulates neuronal
development in the brain. Proc Natl Acad Sci USA 102(47): 17053-8.
Yale University News Release “Novel Discovery of “DCDC2” Gene Associated
With Dyslexia.”
http://www.yale.edu/opa/newsr/05-10-28-02.all.html
January 2006
Gene found that increases risk for diabetes
Diabetes is thought to be caused by a combination of both genetic and
environmental factors. Complicating this further is that the genetic
factors comprise of multiple genes, each contributing more or less to the
onset of diabetes. Identifying all of these genes and determining which
genes are the major players and which ones have a minor role has been
challenging to researchers. Until recently, most genes identified with a
link to diabetes have only minor roles. In January 2006, New York Times
writer, Nicholas Wade, reported that researchers from Decode Genetics
announced in Nature Genetics that variants in the TCF7L2 gene significantly
increase the risk for Type 2 diabetes. A single copy of this gene variant
increases the risk for Type 2 diabetes by 45% and they estimate that 38% of
Americans carry this gene.
References
Wade, N. (2006) “Gene Increases Diabetes Risk, Scientists Find”. The New
York Times.
http://www.nytimes.com/2006/01/16/science/16gene.html?ex=1150257600&en=4c4c4254f759c053&ei=5070
February 2006
Hope for a Progeria cure on the horizon
Progeria is a rare genetic disorder that affects approximately 1 in 8
million children. Children with the disorder experience what appears to be
accelerated aging leading to an early death in the teenage years from health
complications typically seen in the elderly. In the February 22, 2006 issue
of JAMA, B.M. Kuehn reported that while a rare disorder, it has captured the
interest of researchers because a better understanding of Progeria may shed
light on the normal aging process. Kuehn goes on to explain that in 2003,
scientists discovered Progeria is caused by mutations in a gene called
LMNA. In only a short time, a great deal has been learned about the
molecular and cellular characteristics of the disorder. Even more exciting
is that the results from recent studies are encouraging scientists that a
viable treatment and cure may be possible in the near future.
Reference
Kuehn, B.M. (2006).Gene discovery speeds progeria research. JAMA
295(8): 876-878. |