Molecular Biology

Cystic fibrosis is an inherited disorder that causes significant damage to an individual’s lungs, digestive system and other organs throughout the body, Cystic fibrosis affects cells that produce mucus, digestive fluids, and sweat. In normal individuals, these bodily fluids are thin and slippery; in individuals who have cystic fibrosis they are thick. This is due to a defective gene that causes these bodily secretions to be thick and sticky. As one would assume, having thick bodily secretions can cause problems such as obstruction. Instead of acting as a lubricant, the secretions plug passageways, tubes, and ducts especially in the pancreases and lungs. The cause of cystic fibrosis is a mutation in the CFTR gene. The CFTR gene changes in a protein that regulates the movement of salt in and out of cells. In an individual who has cystic fibrosis, the CFTR gene inhibits the protein from functioning properly. The mutation in the CFTR gene is inherited. Each individual inherits a CFT

This week I will be discussing a genetic disorder referred to as Down Syndrome. Down syndrome is a chromosomal disorder that is seen worldwide. Down syndrome is the result of an extra copy of all or part of the 21 st chromosome. With 6000 babies are born with down syndrome each year, the number of individuals with down syndrome are increasing rapidly. There are over 400,000 people in the US alone who are currently living with down syndrome Before I continue, I would like to provide some background information. Every cell in the human body contains genes that are grouped along the chromosomes in the cell’s nucleus. In a normal individual there are 46 chromosomes in each cell, 23 of the chromosomes are inherited from a mother and the other 23 chromosomes are inherited from a father. When an individual has down syndrome, they have an extra full or partial copy of chromosome 21. So instead of having 46 chromosomes, they have 47. The extra full or partial chromosome is caused by an

This week I would like to talk about a disease I came across while I was at work last week called Myiasis. This disease is quite disgusting compared to the ones discussed in my previous posts. Myiasis is an infection of the skin by developing fly larvae otherwise known as maggots. Myiasis can occur in several different parts of the body. Some of the most common sites of infection include the nose, sinuses, pharynx, eyes, both small and large intestines, and genitals. The Pathology of human infection differs depending on the type of type of fly and the mode of infection. Some of the common myiatic flies are the botfly, blowfly, and screwfly. The type of Myiasis that I came across while at work was cutaneous myiasis. Cutaneous myiasis is myiasis affecting the skin. There are three types of cutaneous myiasis, furuncular myiasis, wound myiasis, and migratory myiasis. Furuncular myiasis is mainly caused by the botfly. Botflies lay their eggs on insects such as mosquitos, and when

So, this week I’ll be discussing a rare genetic disorder called sickle cell disease. Sickle cell disease is a genetic disease that causes your Red blood cells to be shaped abnormally. Instead of a normal circle shape, red blood cells in an individual who has sickle cell disease are sickle-shaped (crescent shaped). Before I get into what the disease entails, I’ll give you some background information.   (1)    Cells in tissues need a steady supply of oxygen to work well. Normally, hemoglobin in red blood cells takes up oxygen in the lungs and carries it to all the tissues of the body. (2)    Red blood cells that contain normal hemoglobin are disc shaped which allows the cells to be flexible so that they can move through blood vessels to deliver oxygen. (3)    Sickle hemoglobin is not like normal hemoglobin. It can form stiff rods within the red cell, changing it into a crescent, or sickle shape. (4)    Sickle-shaped cells are not flexible and can stick to vessel walls, c

Duchenne Muscular Dystrophy is a genetic disorder characterized by progressive muscle degeneration and weakness. It is an X-linked recessive mutation that causes an absence of dystrophin. Dystrophin is responsible for skeletal and cardiac muscle function, connects muscular skeleton to extracellular matrix. DMD is primarily found in boys age 3-5. It is usually inherited but has been also shown in families that do not have a known family member with the disease.   DMD causes loss of muscle function and weakness in the muscles, it is found in about 1 in 3500 male births worldwide DMD is Inherited by X-linked recessive pattern. Since males only have one copy of the X chromosome (XY) and females have 2 copies of the X chromosome (XX), the disease is primarily seen in males. The mutation is often passed down from a mother who has the mutation. It is estimated that 50% of boys will be affected by a mother who carries a copy of the mutated gene on her X chromosome. There is about a two-

This week ill be discussed the genetic disorder Hemophilia A. What is Hemophilia A ? It is a bleeding disorder caused by a lack or decrease of clotting factor VIII. People with hemophilia A often, bleed longer than other people. There are three different types of Hemophilia A, mild, moderate, and severe. (1)    People with Mild Hemophilia A generally experience bleeding only after serious injury, trauma or surgery. In many cases, mild hemophilia is not diagnosed until an injury, surgery or tooth extractio n results in a period of prolonged bleeding . (2)    Peop le with moderate hemophilia A tend to have bleeding episodes after injuries. Bleeds that occur without obvious cause are called spontaneous bleeding episodes. (3)    People with severe hemophilia A experience bleeding following an injury and may have frequent spontaneous bleeding episodes, often into their joints and muscles. So how is the disorder inherited? The gene for hemophilia is carried on the X chromo