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Genetic Disorders

Genetic disorders are diseases due to abnormality in one’s DNA (in medical terms, Deoxyribonucleic acid). These abnormalities may be associated with just a single or multiple genes and chromosomes. Common cases are already found from before birth. Abnormalities may be observed due to little mutation on a single gene or addition/subtraction of a chromosome from a normal count of 23 pairs. Genetic disorders are rare in nature. In statistics, there is only one person every one million who incur genetic disease.

There are three levels of genetic disorders. The first level involves single gene disorders. This level indicates disorders which result from mutation on a single gene. This causes the gene to be altered with some of its parts missing. The second level involves abnormalities in chromosome.  This level incurs disorders due to chromosome changes. It can happen to the entire chromosome or even just a large segment of them is missing. There are also cases where duplication of chromosomes occurs. The third level involves disorders in multi-factorial. The disorders which result on this level are due to mutations of multiple genes. Compared with the first and second level, genetic disorders on this level may be obtained in the environment.

Here are some examples of disorders in each level.

First Level: Single-Gene Disorders

• Adenosine Deaminase – this disorder affects one’s immune system. It lets the body be completely exposed and open to infection from bacteria and viruses.
• Alpha-1 antitrypsin Deficiency – This disorder is an autosomal recessive disorder. The abnormal gene developing the disease can be inherited from the parents.
• Cystic Fibrosis – this disorder is caused by a defective gene in chromosome number 7. It thickens the mucous in the pancreas which aids proper digestion of food.

Second Level: Chromosome Abnormalities

• Turner Syndrome – This syndrome is caused by a missing or incomplete X chromosome. This is commonly developed in females. It affects one’s growth and development in sexual cases.
• Cri-du-Chat Syndrome –This syndrome causes one undeveloped larynx. With this, the name itself suggests the cry of children having this kind of disorder.
• Down Syndrome – This syndrome is a developmental disorder due to an additional chromosome which is a copy of chromosome 21. It produces more protein more than normal.
• William’s Syndrome – this disorder affects one’s growth. It hinders physical development due to missing gene. The missing genetic material can be rooted from the gene elastin.

Third Level: Multi-factorial Disorders

• Hypothyroidism – This is a condition where a person’s thyroid gland produces little amount of thyroid hormones. The root of this disorder is a defective chromosome number 2 which plays an important role in production of thyroid hormone.
• Colon Cancer – This disease is developed when the colon’s lining acquire cancer cells. These cells suddenly divide out of control which causes the formation of tumor.
• Alzheimer’s Disease – Alzheimer’s disease allows one to loss brain function which often causes dementia. It affects one’s memory. People found having this disease commonly exhibit difficulty in memorizing, thinking and speaking.

 

Your genes, your blueprint

Anybody can do anything that he imagines. - Henry Ford