Evaluating Your Risk for Inherited Disease

EvaluatingYour Risk for Inherited Disease

EvaluatingYour Risk for Inherited Disease

Apotential hereditary disease that is likely to be experienced is Type1 diabetes mellitus. This inference is because diabetes has beenshown to have some genetic relationships between the parents and theoffspring.

Diabetesmellitus is classified as a severe metabolic disorder that ischaracterized by significant amounts of sugar in the bloodstream foran extended period. The accumulation of sugar in the blood leads tosymptoms such as frequent urination, feeling of thirst, increasedhunger, fatigue, blurred vision, sweating, agitation and a tinglingsensation in the hands and feet. Type 1 diabetes arises due to lackof enough insulin production by the pancreas. Since insulin is thehormone involved in the uptake of glucose by the body cells, itsinadequacy or absence thereof leads to the accumulation of the sugarin the blood. If this condition persists for a prolonged period, itcan result in severe complications such as a coma, cardiovasculardiseases, stroke, eye damage and even kidney failure in the long term[ CITATION Nat161 l 1033 ].

Reasonfor Selection

Inmost cases, for type 1 diabetes to occur, the genetic risk factorshave to be inherited from the parents. Additionally, for a man withtype 1 diabetes, the odds of his child developing diabetes are 1 in17 [ CITATION Ame14 l 1033 ].This risk ishigher compared to a woman with the same disorder where the oddsstand at 1 in 25 for births below 25 years of age and 1 in 100 fordeliveries after the age of 25 respectively. Also, close to 20million individuals who have this type of diabetes are mainlychildren and young adults [ CITATION Ame14 l 1033 ].

Modeof inheritance

Althoughenvironmental factors may act as triggers for the development of type1 diabetes, the role of genetics cannot be left out. As such, T1D isconsidered an autoimmune disease. The risks of the disorder arerelated to variants of individual genes of the Human Leukocyte (HLA)complex. This family of genes is involved in the immune systemplaying the function of differentiating between self-proteins andforeign proteins. As an autoimmune disease, the immune system in T1Dattacks the Beta cells of the pancreas that produce insulin, leadingto impairment in its production hence the rise of the related signsand symptoms. HLA variations have been identified as having thepotential to cause 40 percent of the genetic risk conditions for type1 diabetes [ CITATION Nat161 l 1033 ].

Apparently,first-degree relatives have a greater risk of approximately 6% ofdeveloping type 1 diabetes compared to unrelated individuals in thegeneral population who have a less than 1% risk. This findingstrongly indicates that T1D is partially inherited together withseveral other genes including specific HLA genotypes. There is apossibility that the responsible genes may have some defects, forinstance, genetic defects in Beta-cell functions, Beta cellmitochondrial DNA mutation, insulin gene mutation and insulinreceptor mutations. The inheritance of these genetic defects from theparents to the offspring tends to raise the possibility of an attackby a similar disorder especially in the presence of environmentalfactors that either initiate or accelerate the process (Eisenbarth,2009).

Otherinformation

Forus to obtain better conclusions about T1D, it is important toidentify other resources and research materials which provide all theimplicated environmental, health, and genetic factors that can leadto this disorder. Also, the available prevention and treatmentoptions such as insulin injection, exercise and healthy diets,genetic counseling, surgery, rehabilitation and palliative care serveas valuable information for the management of the disease.

Problemsencountered in obtaining information

Themain issues faced include the lack of sufficient historicalbackground of the disease from the ancestral beginnings. In otherwords, the information was restricted to the last two generations. Inaddition, other relatives who have the disorder were not easy toreach out to hence determining the origin of the genetic disorder wasnot clear.

Whatto tell a Child

Ifone has a child, it is important to relay the information about thechances of developing T1D. As mentioned above, the risks ofdeveloping the disease are higher if the father has it more than fromthe mother. Also, first-degree relatives are more predisposed to it.While the chances might seem slim, the child has to be provided withadequate information regarding the prevention measures that can bepracticed to prevent the onset of type 1 diabetes. Finally, usingthis information, the child will be prepared psychologically and canbe able to make wise decisions concerned with health.

Searchterms

Thesearch terms used for the references were: Genetics of Diabetes

Combinationof Search terms:

Variouscombinations of search terms were employed for instance “Geneticsof Diabetes”, “Genetics and Diabetes” as well as “Causes ofDiabetes Mellitus.”

Theuse of single search terms yielded the most results. However, acombination produced the most relevant ones.

Thesearch was not refined by performing initial searches and narrowingdown.

Thereferences obtained appropriately support the conclusions madepreviously. They also gave further in-depth information regarding thetopic.

References

American Diabetes Association. (2014, May 20). Genetics of Diabetes. Retrieved from American Diabetes Association: http://www.diabetes.org/diabetes-basics/genetics-of-diabetes.html?referrer=https://www.google.com/

Eisenbarth, G. S. (2009).&nbspImmunoendocrinology: Scientific and clinical aspects. Totowa, N.J: Humana.

National Library of Medicine. (2016, June 14). Type 1 Diabetes. Retrieved from Genetics Home Reference: https://ghr.nlm.nih.gov/condition/type-1-diabetes#diagnosis