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Types of Genetic Disorders

By Edited Jun 29, 2014 0 0

DNA (33475)


There are 4 different kinds of genetic disorders that affect different parts of the body and its cells. The type of disorder will determine distinctly the type of treatment necessary. Much research has been done to discover causes, effects and functioning of all genetic disorders so that treatment may become possible. The following are the four types of genetic disorders.

Single gene [mendelian or mono genetic]
This is the most simple type of genetic disorder and concerns protein genes that are responsible for most of the work, life functioning of humans and make up the majority of the cellular structures in our bodies. There are 6,000 known single gene disorders with 1 in 200 births being affected. Cystic fibrosis, sickle cell anemia, Marfan syndrome, Huntington's disease and Hereditary Chemo Chromatosis are all single gene diseases. These diseases are usually inherited and can be autosomal dominant, autosomal recessive or X-linked.

Multifactorial [complex or polygenic]
This type of disease includes multiple genes and can also have been affected by environmental factors. It is obviously more difficult to analyze and diagnose. Most of the more common diseases are, of course, multifactorial; this includes heart disease, high blood pressure, Alzheimer's disease, arthritis, diabetes and cancer. Multifactorial inheritance is also responsible for physical traits such as fingerprints height, eye and skin color to be passed down generation to generation.

This disease includes structural problems with the chromosome. The chromosome structures are made of SNA and proteins in the nucleus of the cell, occasionally there are extra copies, breaks, missing pieces or incorrect rejoining within the structure. Down syndrome is the cause of three copies of chromosome 21, which gives its medical name; Trisomy 21.

This is a relatively rare genetic disorder concerning dysfunction with the mitochondria. Mitochondria are small rodlike organelles that are responsible, in part, for cellular respiration [metabolism and oxygen use] and provide more than 90% of the energy used by your body to sustain life and growth. They exist in the cytoplasm and each has 5 to 10 pieces of DNA. Mitochondrial diseases cause the most damage to cells in the brain, heart, liver, skeletal muscles, kidneys and endocrine and respiratory systems.

Currently, scientists are constantly discovering new causes for these diseases and understanding more and more about how they function. Understanding the genetics involved in these diseases is key to the many treatments that have become active. Let us hope that we will continue learning and coming up with solutions for these diseases.

Also see Gene Therapy

And How Gene Therapy Works



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