Genetic disordersDaniel González Arroyave

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IntroductionExamples of genetic

disorders:- Fenilcetonuria- Enfermedad de

hountington- Fibrosis quistica- Talasemia

Mutations:- Substitutio

n- Insertion- Deletion- Frameshift

External influences can

create mutations:- Chemical

factors- Radiative

factors- Biological

factors

Crohn diseaseInflammation 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 disease

Studies 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 disease

Student 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.

MOPDIIAfter 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.

MOPDII

centrosomes, 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.

MOPDII

Pericentrin 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

MOPDII

Student opinion

There’s 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

Bibliography

• Genetic s Home Reference.(2007, August). Crohn disease. Retrieved July 25, 2015 from http://ghr.nlm.nih.gov/condition/crohn-disease

• Genetic 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-ii

• http://www.dhcla.com/blog/what-is-crohns-disease