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Genetic disordersDaniel Gonzlez Arroyave

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Introduction

Examples of genetic disorders:FenilcetonuriaEnfermedad de hountingtonFibrosis quisticaTalasemia Mutations:SubstitutionInsertionDeletionFrameshift External influences can create mutations:Chemical factorsRadiative factorsBiological factors

Crohn disease

Inflammation can occur in any part of the digestive system, however. The inflamed tissues become thick and swollen, and the inner surface of the intestine may develop open sores (ulcers).Crohn disease most commonly appears in a person's late teens or twenties, although the disease can appear at any age.

Crohn diseaseIntestinal blockage is a common complication of Crohn disease. Blockages are caused by swelling or a buildup of scar tissue in the intestinal walls.

Crohn diseaseA variety of genetic and environmental factors likely play a role in causing Crohn disease.

Cigarette smoking is thought to increase the risk of developing this disease, and it may also play a role in periodic flare-ups of signs and symptoms.

Crohn diseaseStudies suggest that Crohn disease may result from a combination of certain genetic variations, changes in the immune system, and the presence of bacteria in the digestive tract.

Variations in any of these genes may disrupt the ability of cells in the intestine to respond normally to bacteria.

Crohn diseaseStudent opinion

I think that is so difficult to determinate the Crohn disease because the symptoms are so similar to the other gastrointestinal diseases. It is important to keep in mind the possibility of a molecular disorder.

MOPDII

After birth, affected individuals continue to grow at a very slow rate. The final adult height of people with this condition ranges from 20 inches to 40 inches.Facial features characteristic of MOPDII include a prominent nose, full cheeks, a long midface, and a small jaw. Other signs and symptoms seen in some people with MOPDII include small teeth (microdontia) and farsightedness.

MOPDIIcentrosomes, which are part of chromosomes, play a role in cell division and the assembly of microtubules. Microtubules are fibers that help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells.

MOPDIIPericentrin acts as an anchoring protein, securing other proteins to the centrosome.Through its interactions with these proteins, pericentrin plays a role in regulation of the cell cycle,Mutations in the PCNT gene cause MOPDII. The PCNT gene provides instructions for making a protein called pericentrin.

MOPDIIPCNT gene mutations lead to the production of a nonfunctional pericentrin protein that cannot anchor other proteins to the centrosome. As a result, centrosomes cannot properly assemble microtubules, leading to disruption of the cell cycle and cell division.Impaired cell division causes a reduction in cell production, while disruption of the cell cycle can lead to cell death. This overall reduction in the number of cells leads to short bones, microcephaly, and the other signs and symptoms of MOPDII.

This condition is inherited in an autosomal recessive pattern

MOPDIIStudent opinionTheres an example of how a mistake to produce proteins could lead serious affectations to the phenotype

Medical utility

Medical utility

As it noticed in the past two diseases, they present big changes in the phenotype and the structure caused by very small modification in the cell cycle process.

Medical utility

Beside the heritage factors, the genetic disorders may be affected by other factors. That is why is important to ask everything about his/her lifestyle, environment and socioeconomic conditions during the diagnosis to give a right treatment

Medical utility

As time passes, the climatic and environmental conditions are making mutation more and more possible what implies to us, be more prepared about genetic disorders because every time they will be more frequent and unknown

BibliographyGenetic s Home Reference.(2007, August). Crohn disease. Retrieved July 25, 2015 from http://ghr.nlm.nih.gov/condition/crohn-diseaseGenetic s home Reference. (2011, January).Microcephalic osteodysplastic primordial dwarfism type II. Retrieved july25, 2015 from http://ghr.nlm.nih.gov/condition/microcephalic-osteodysplastic-primordial-dwarfism-type-iihttp://www.dhcla.com/blog/what-is-crohns-disease