List of Protein Project Disorders



Name: ___________________________________ Date ___________ Per.____

List of Protein Project Disorders

1. Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. . Individuals who have DMD have progressive loss of muscle function and weakness, which begins in the lower limbs. Few individuals with DMD live beyond their 30s. Breathing complications and cardiomyopathy are common causes of death.

2. Phenylketonuria (PKU)

Phenylketonuria (PKU) is an inherited disorder of metabolism that causes an increase in the blood of a amino acid known as phenylalanine. Phenylalanine comes from a person's diet and is used by the body to make proteins. Phenylalanine is found in all food proteins and in some artificial sweeteners. Without dietary treatment, phenylalanine can build up to harmful levels in the body, causing mental retardation and other serious problems.

3. Cystic Fibrosis

Cystic fibrosis (CF) is the most common, fatal genetic disease in the United State. CF causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas, which stops digestive enzymes from reaching the intestine where they are required in order to digest food.

4. Sickle Cell Disease

Sickle cell disease is the most common inherited blood disorder in the United States. People with sickle cell disease have abnormal hemoglobin proteins on their red blood cells that causes them to stick to one another. This forms long, rod-like structures, assuming a sickle shape instead of the normal round. Their shape causes these red blood cells to pile up, causing blockages and damaging vital organs and tissue.

5. Achrondroplasia

People who have achondroplasia have abnormal bone growth that causes the following clinical symptoms: short stature with disproportionately short arms and legs, short fingers, a large head (macrocephaly) and specific facial features with a prominent forehead (frontal bossing) and mid-face hypoplasia.

6. Huntington’s Disease

Huntington's disease (HD) is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline. This defect results from the huntington protein being malformed and prone to clumping in the brain and causing the death of nearby nerve cells. There is no cure for this fatal disease.

7. Albinism

This mutation disrupt the normal production of melanin, which reduces coloring of the hair, skin, and eyes and causes problems with vision.

8. Tay-Sachs Disease

Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that results in progressive destruction of the nervous system. The children lack an enzyme to break down fat that accumulates in the brain. This ongoing accumulation causes progressive damage to the cells.

9. Hemochromatosis

Hereditary hemochromatosis (HH) is a genetic disease that alters the body's ability to regulate iron absorption. HH causes the body to absorb too much iron in the organs, leading to diseases such as cirrhosis of the liver, liver cancer, diabetes, heart disease and joint disease.

10. Hemophilia

Hemophilia is a bleeding disorder that slows down the blood clotting process. People who have hemophilia often have longer bleeding after an injury or surgery. People who have severe hemophilia have spontaneous bleeding into the joints and muscles. Hemophilia occurs more commonly in males than in females.

11. Trimethylaminuria

Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide. Trimethylamine builds up in the body of patients with trimethylaminuria. The trimethylamine gets released in the person's sweat, urine, reproductive fluids, and breath, giving off a strong fishy odor.

Question:

1. What disease could cause you to bleed to death? ______________________________

2. What disease results in no melanin in the body? ___________________

3. What is a blood disorder that changes the shape of a red blood cells? __________

4. What occurs mostly in boys and causes muscle loss, usually in the lower limbs? _________

5. What disease can cause you to smell like a fish? __________

6. What disease is fatal to children causing damage to the brain? __________

7. What disease causes people to be abnormally small? _________________

8. Without dietary treatment, what disease can cause a build-up in the blood leading to mental retardation? _______________________

9. What disease results in involuntary movement due to death of a nerve cell? ____________

10. What disease is caused by the inability to regulate the absorption of iron? _____________

11. What disease causes the body to produce thick mucus in the organs leading to blockage in the lungs and intestines? ____________________________

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