Gene

Chromosome

　

Phenotype

Genotype

　

Autosomal recessive inheritance

Sex-linked inheritance

　

Carrier

Genetic Disorder

Genetic Pancreatic enzyme deficiency

　

Translation

Transcription

Base Pair

Genetic Marker

　

Epithelial Cell

Hepatobiliary disease

　

Membrane

Transport

　

Cystic Fibrosis is a chronic, progressive disease that is genetically inherited. The name Cystic Fibrosis of the pancreas was first applied in 1938.

　

Clinical manifestations of CF are broad and varied. However, they are all linked to mutations in a particular DNA fragment that is missing a mere 3 base pairs. This deletion results in the absence of an amino acid, hindering the transport of CL (chlorideion, component of salt) across epithelial cells in airways, pancreas, intestine, and sweat glands. CF is characterized by chronic lung disease, pancreatic insufficiency, gastrointestinal obstruction, and increased sodium and chloride in the sweat.

　

There have been over 400 mutations identified on the CFTR gene (Cystic Fibrosis Transmembrane regulator). 70% of CF cases are caused by the production of a mutant protein delta F508. Other cases vary clinically, as their faulty gene produce different proteins.

　

The most serious challenge faced by CF patients is the respiratory manifestations of the disease. In early stages, sinusitis is chronic and acute. Coughing is nearly always present, and, as the lungs work very hard to bring in a limited amount of air, hyperinflation and wheezing are common. Respiratory infections are acute and chronic - bacteria thrive in the mucus that accumulates in the lungs.

　

Another area in which CF patients have difficulty is in the gastrointestinal tract. Intestinal obstructions such as Meconium Ileus ( a diagnostic symptom for CF) are common.

　

The third clinical area is pancreatic disease. Those with pancreatic enzyme deficiency must take enzymes with their food (in pill form). The ducts to the pancreas are blocked, causing malabsorption of fats, protein, nitrogen. Diabetes is also present in about 8% of CF patients older than 11.

　

Altered Wolfian structures and infertility (the rate of which is higher in men than women) are other clinical manifestations. Hepatobiliary disease is also common.

　

In the future, gene therapy ( using viral vectors with a normal CFTR gene) may be possible. Scientists have taken a culture from the nasal airways of CF patients and succeeded in correcting the CF defect by inserting normal genes into CF cells.

　

For the present, Therapy for the lungs and for digestive problems have evolved greatly over the last 25 years. The digestive problems of CF are less serious and more easily managed than the lung problems. Supplements of vitamins A,D,E, and K are given, as well as pancreatic enzymes, which help digestion. A well-balanced, high caloric diet -low in fat and high in protein, is prescribed. Enemas and mucolytic agents are used to treat intestinal obstructions.

　

Lung therapy consists first of physical therapy. The chest is clapped and vibrated to dislodge the mucus and help move it out of the airways. This clapping has to be done by family members for children, but adults can learn to do it by themselves. This clapping takes about an hour a day. Medications used to help breathing are often inhaled. These include mucolytics (loosen mucus), bronchodilators, and decongestants. Antibiotics to fight lung infections are used and my be taken orally, in aerosol form or by injection into a vein.

　

General Vocabulary

　

Degenerative disorder of the brain

Dementia

　

Apoplexy

Sporadic

Alipoprotein E

Beta Amyloid Protein

Gamma Secretase

Enzyme

　

Clump

Plaque

Nerve Cell

Tangle

Inhibit

　

Stimulation of left/right side of brain

Sense of Caution

　

Mood Swings

Memory Loss

Confusion

Decline in Higher Mental Functions.

　

Clinical Trial

　

Alzheimer's Disease was originally named for Alois Alzheimer, who, in 1906, first discovered the tangles of nerve cells and plaque composed of beta amyloid protein that are the causes of this disorder.

　

Research for Treatment focuses on inhibiting the enzyme called Gamma Secretase, which is essential for the production of Beta Amyloid Protein.

　

However, Gamma Secretase is also instrumental in the maintenance of blood cells. And, furthermore, its functions are not known exhaustively. For these reasons, Bristol Myers Squibb's research aims at developing a medicine that will reduce levels of Gamma Secretase only by 30 or 40 percent.

(7/10/2000).

　

As of yet, scientists have not succeeded in artificially creating tangles in the nerve cells in the brains of mice, which has been an impediment to research.

　

Currently available medication for Alzheimer' disease maintain normal levels of the chemical called acetylcholine. There is a shortage of Acetylcholine in the brains of Alzheimer's patients. Aricept, Exelon and Reminyl maintain existing supplies of acetylcholine, and have possible side effects such as diarrhea or insomnia, fatigue and loss of appetite.

　

Alzheimer's disease is a progressive disorder - which means it become worse as time progresses. So far no one single factor has been identified as a cause of Alzheimer's disease. Age, Genetic make-up, Environmental factors and others have been seen to be contributing factors to the development of Alzheimer's disease.

　

People in the early stage of Alzheimer's disease may experience lapses of memory, and have problems finding the right words. As the disease progresses, they may:

　

Become confused, and frequently forget names of people, places, appointments and recent events.

　

Experience mood swings. They may feel sad or angry, scared or frustrated by their increasing memory loss.

　

Become withdrawn because they lose confidence or have problems communicating.

　

Find out about Dementia - Research your illness and know what will happen in the future .

　

Get support - Ask for support or think about joining a group with other people with dementia.

　

Stay as active as you can.

　

　

Keep a note book or diary, with important things you need to remember in it.

　

Keep valuables in the same place

　

Pin a weekly timetable to the wall.

　

Have a daily newspaper delivered.

　

Have a routine (Doing things in order each time)

　

Write reminders to youreelf

　

Maintain your skills by using them.

　

Give yourself plenty of time and don't rush things.