Genetic basis of Diabetes Type

1 and Huntingtons Disease.

NAME: MOYA MCLEOD
DATE: SEPTEMBER 26, 2013
Diseases occur throughout the world today. New diseases have been
found and old diseases have been researched. New understandings of
disease have been found due to technological advancements. These
advancements have allowed for new information especially genetic
information of the disease. New information had been found in
diseases such as Diabetes Type 1 and Huntingtons Disease. These two
diseases will be the basis for this presentation of the link between
disease and genes.
Diabetes type 1 is an autoimmune destruction of insulin producing
beta-cells from the pancreas caused by environmental factors on
genetically predisposed persons. Insulin maintains the glucose passed
into the cells of the body and in type 1 the normal insulin level is
altered (MedlinePlus, 2011).
Although the causes of Diabetes Type 1 are unknown, a genetic link
had been established. According to The United Stated National Library
of Medicine (2013), certain variants of the Human Leukocyte Antigen
(HGA) Complex increase Type 1. This complex normally identifies
proteins made in the body different from those made by a foreign

organism. Variants can lead to functional differences of the complex.

Another locus related to type 1 incidence is a variant number tandem
repeat region in the promoter of the INS gene. This gene regulates how
much insulin is produced (Meher, 2013). There are three classes and in
class 1 (IDDM 1-18) there is a higher frequency of alleles. The Tlymphocyte antigen (CTLA-4) also has been linked to Diabetes Type 1
incidence. It produces a negative signal for T-Cell activation. Moreover,
Phosphotyrosine Protein Phosphatase non- receptor 2 (PTPN2) on 1p13
has been linked to the incidence. It encodes lymphoid protein tyrosine
phosphatase. Next gene is Inteferon induced with helicase C domain 1
(IFIH1) on 2q24.3 and finally Vitamin D receptor (VDR) inhibits T-Cell
proliferation is also defected in Type 1 Diabetes (Mehers, 2008).
Moving away from Diabetes Type 1, the next disease with genetic links
is Huntingtons Disease. It is a brain disorder that affects the persons
ability to think, talk, and move (The University of Utah, 2013). It
destroys cells in the basal ganglia. It is caused by a mutation of a gene
on chromosome 4. This gene produces huntingtin that controls the
delivery of vesicles containing important molecules to the extra cellular
face of the cell. Normal coding is CAG repeats ranging from 10- 26
times but in Huntingtons disease there is an abnormal number of
these repeats. In an offspring the disease is inherited in an autosomal
dominant pattern. At about ages 30- 50 they will experience poor

memory, depression and or mood swings, lack of communication,

among other things.
These two diseases have strong genetic links and are a part of the
start of finding genetic links in diseases.

Reference:
n.p. (2009, August 2). "What Is Huntington's Disease? What Causes
Huntington's Disease?." Medical News Today. Retrieved September 24,
2013, from http://www.medicalnewstoday.com/articles/159552.php.
MedlinePlus. (2011, June 28). Type 1 Diabetes. Retrieved September
23, 2013, from http://ghr.nlm.nih.gov/condition/type-1-diabetes
Mehers, K. L., & Gillespie, K. M. (2008). The genetic basis for type 1
diabetes. The British Medical Bulletin, 88, 115-129. Retrieved from
http://bmb.oxfordjournals.org/content/88/1/115.full.pdf.
United States National Library of Medicine. (2013, September 16). Type 1 diabetes.
Retrieved September 23, 2013, from http://ghr.nlm.nih.gov/condition/type-1-diabetes
The University of Utah, Genetic Science Learning Centre. (2013).
Huntington's Disease. Retrieved September 24, 2013, from
http://learn.genetics.utah.edu/content/disorders/whataregd/hunt/