Mini Pt Biology.docx

Name of Disease: Huntington’s Disease Causes:

Huntington's disease is caused by an inherited defect in a single gene. Huntington's disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disorder.

Symptoms:

Huntington's disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms. Which symptoms appear first varies greatly among affected people. During the course of the disease, some disorders appear to be more dominant or have a greater effect on functional ability.

Protein involved: Amyloid β peptide, Tau Protein. The HTT gene provides instructions for making a protein called huntingtin.

Name of Disease: Cystic Fibrosis Disease

Causes:

a defect (mutation) in a gene changes a protein that regulates the movement of salt in and out of cells. The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat. *Caused by inheriting two copies of the same abnormal gene, one from each parent.

Symptoms:

Very salty-tasting skin, Persistent coughing, at times with phlegm, Frequent lung infections including pneumonia or bronchitis, Wheezing or shortness of breath, Poor growth or weight gain in spite of a good appetite, Frequent greasy, bulky stools or difficulty with bowel movements, and Male infertility.

Protein involved: Cystic fibrosis transmembrane conductance regulator (CFTR)

Name of Disease: Tay-Sachs Causes:

Symptoms:

Absence of a vital enzyme called hexosaminidase-A (HexA). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells.

Deafness progressive blindness, decreased muscle strength, increased startle responseparalysis or loss of muscle function, seizuremuscular stiffness (spasticity), delayed mental and social development, red spot on the macula (an oval-shaped area near the center of the retina in the eye).

Protein involved: Hexosaminidase A

Name of Disease: Cataract Causes:

Most cataracts develop when aging or injury changes the tissue that makes up your eye's lens.Some inherited genetic disorders that cause other health problems can increase your risk of cataracts. Cataracts can also be caused by other eye conditions, past eye surgery or medical conditions such as diabetes. Longterm use of steroid medications, too, can cause cataracts to develop.

Symptoms:

Clouded, blurred or dim vision, Increasing difficulty with vision at night, Sensitivity to light and glare, Need for brighter light for reading and other activities, Seeing "halos" around lights, Frequent changes in eyeglass or contact lens prescription. Fading or yellowing of colors,Double vision in a single eye.

Protein involved: Human gammaDcrystallin (HgammaD-Crys), a major protein of the human eye lens, is a primary component of cataracts.

Name of Disease: Gaucher’s Disease Causes:

Functional deficiency of glucocerebrosidase (GBA), a lysosomal enzyme that hydrolyzes glucosylceramide to ceramide and glucose.

Symptoms:

For type 1, the symptoms are: Enlarged liver or spleen, Anemia, Low levels of blood platelets, Arthritis, Osteoporosis, Bone pain, and Lung disease while type 2 includes Enlarged spleen, Abnormal eye movements, Doesn't gain weight, Pneumonia, Throat muscle spasms, Collodion skin, Slow heart rate, Stops in breathing, Infections, Lung problems, Seizures, Brain damage, and Bluish skin.

Protein involved: Beta-glucocerebrosidase

Name of Disease: Amyloidosis Causes:

Buildup of an abnormal protein called amyloid which is produced in the bone marrow and can be deposited in any tissue or organ.

Symptoms:

Swelling of the ankles and legs, Severe fatigue and weakness, Shortness of breath, Numbness, tingling or pain in hands or feet, pain in the wrist, Diarrhea, Unintentional weight loss, An enlarged tongue, Skin changes, An irregular heartbeat and Difficulty swallowing.

Protein involved: Amyloid

Name of Disease: Amyotrophic lateral sclerosis (ALS) Causes:

Gene Mutation,ChemicalInbalance, Disorganized Immune Response, Protein Mishandling

Symptoms:

Difficulty carrying out daily activities, increased clumsiness, weakness in the feet, hands, legs, and ankles, cramping and twitching in the arms, shoulders, or tongue, difficulty maintaining good posture and holding the head up, uncontrolled outbursts of laughing or crying, cognitive changes, slurring of speech and difficulty with voice projection, pain, fatigue, problems with saliva, and mucus, difficulty breathing and swallowing..

Protein involved: TDP43, tau, and alpha-synuclein-negative frontotemporal dementia.

Name of Disease: Creutzfeldt-Jakob Disease Causes:

Caused by an abnormal infectious protein in the brain called a prion. Prions are misfolded prion proteins that build up in the brain and cause other prion proteins to misfold as well.This causes the brain cells to die, releasing more prions to infect other brain cells.

Symptoms:

Personality changes, Anxiety, Depression, Memory loss, Impaired thinking, Blurred vision or blindness, Insomnia, Difficulty speaking, Difficulty swallowing, and Sudden, jerky movements.

Protein involved: Prion

Name of Disease: Parkinson’s Disease Causes:

Certain nerve cells (neurons) in the brain gradually break down or die. Many of the symptoms are due to a loss of neurons that produce a chemical messenger in your brain called dopamine. When dopamine levels decrease, it causes abnormal brain activity, leading to symptoms of Parkinson's disease. * Caused by either environmental or genetic factors

Symptoms:

Tremor, Slowed movement (bradykinesia), Rigid muscles, Impaired posture and balance,Loss of automatic movements,Speech changes, Writing changes.

Protein involved: Alpha-synucleina protein whose function in the healthy brain is currently unknown.Synphilin-1, parkin and UCH-L.

Name of Disease: Anderson Fabry Disease

Causes:

Fabry disease is caused by a defect on the X chromosome. Xlinked genetic mutations tend to occur mostly in males, and rarely in females.

Symptoms:

Pain and burning in your hands and feet that get worse with exercise, Small-dark red spots usually found between the belly button and knees, Cloudy vision, Hearing loss, Ringing in the ears,Sweating less than normal, and Stomach pain.

Protein involved: Alpha-galactosidase A

MINI PERFORMANCE TASK IN GENERAL BIOLOGY

: Kane Ezekiel Q. Saludes 12-CHARITY

Submitted By

Submitted To

: Ms. Almira Del Mundo