- Genetic Diseases Overview Center
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- Patient Comments: Genetic Disease - Screening
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What is a genetic disease?
A genetic disease is any disease that is caused by an abnormality in an individual's genome, the person's entire genetic makeup. The abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosome abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Some genetic disorders are inherited from the parents, while other genetic diseases are caused by acquired changes or mutations in a preexisting gene or group of genes. Mutations can occur either randomly or due to some environmental exposure.
What are the different types of inheritance?
There are a number of different types of genetic inheritance, including the following four modes:
Single gene inheritance
Single gene inheritance, also called Mendelian or monogenetic inheritance. This type of inheritance is caused by changes or mutations that occur in the DNA sequence of a single gene. There are more than 6,000 known single-gene disorders, which occur in about 1 out of every 200 births. These disorders are known as monogenetic disorders (disorders of a single gene).
Some examples of monogenetic disorders include:
Single-gene disorders are inherited in recognizable patterns: autosomal dominant, autosomal recessive, and X-linked.
Multifactorial inheritance, which is also called complex or polygenic inheritance. Multifactorial inheritance disorders are caused by a combination of environmental factors and mutations in multiple genes. For example, different genes that influencebreast cancer susceptibility have been found on chromosomes 6, 11, 13, 14, 15, 17, and 22. Some common chronic diseases are multifactorial disorders.
Examples of multifactorial inheritance include:
Multifactorial inheritance also is associated with heritable traits such as fingerprint patterns, height, eye color, and skin color.
Chromosomes, distinct structures made up of DNA and protein, are located in the nucleus of each cell. Because chromosomes are the carriers of the genetic material, abnormalities in chromosome number or structure can result in disease. Abnormalities in chromosomes typically occur due to a problem with cell division.
For example, Down syndrome (sometimes referred to as "Down's syndrome") or trisomy 21 is a common disorder that occurs when a person has three copies of chromosome 21. There are many other chromosome abnormalities including:
- Turner syndrome (45,X0),
- Klinefelter syndrome (47, XXY), and
- Cri du chat syndrome, or the "cry of the cat" syndrome (46, XX or XY, 5p-).
Diseases may also occur because of chromosomal translocation in which portions of two chromosomes are exchanged.
This type of genetic disorder is caused by mutations in the non-nuclear DNA of mitochondria. Mitochondria are small round or rod-like organelles that are involved in cellular respiration and found in the cytoplasm of plant and animal cells. Each mitochondrion may contain 5 to 10 circular pieces of DNA. Since egg cells, but not sperm cells, keep their mitochondria during fertilization, mitochondrial DNA is always inherited from the female parent.
Examples of mitochondrial disease include:
What is the human genome?
The human genome is the entire "treasury of human inheritance." The sequence of the human genome obtained by the Human Genome Project, completed in April 2003, provides the first holistic view of our genetic heritage. The 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes) between them house almost 3 billion base pairs of DNA that contains about 20,500 protein-coding genes. The coding regions make up less than 5% of the genome (the function of all the remaining DNA is not clear) and some chromosomes have a higher density of genes than others.
Most genetic diseases are the direct result of a mutation in one gene. However, one of the most difficult problems ahead is to further elucidate how genes contribute to diseases that have a complex pattern of inheritance, such as in the cases of diabetes, asthma, cancer, and mental illness. In all these cases, no one gene has the yes/no power to say whether a person will develop the disease or not. It is likely that more than one mutation is required before the disease is manifest, and a number of genes may each make a subtle contribution to a person's susceptibility to a disease; genes may also affect how a person reacts to environmental factors.
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Top Genetic Disease Related Articles
AchondroplasiaA common form of short stature, achondroplasia (dwarfism) is a genetic condition causing a disorder of bone growth. Complications of achondroplasia that need monitoring include (this is not all inclusive) stenosis and compression of the spinal cord, a large opening under the skull, lordosis, kyphosis, spinal stenosis, hydrocephalus, middle ear infections, obesity, and dental crowning. Achondroplasia is caused by mutations of the FGFR3 gene.
Alpha 1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder caused by mutations in the SERPINA1 gene. People with the condition are at risk for developing serious lung and liver disease. Symptoms and signs of lung disease caused by this condition include:
The earliest symptoms and signs of lung disease usually develop between 20 and 50 years of age, and are
- The reduced ability to exercise
- Shortness of breath (dyspnea) following mild activity
Other symptoms and signs of alpha-1 antitrypsin deficiency are:
- Rapid heartbeat when going from sitting to standing
- Recurring respiratory infections
- Unintentional weight loss
Lung disease: People with this condition often develop emphysema, with symptoms of a hacking cough, barrel-shaped chest, and difficulty breathing. If you have this condition and smoke or are exposed to tobacco smoke, it accelerates the appearance of emphysema symptoms and lung damage.
Liver disease: Alpha-1 antitrypsin deficiency also cause liver disease in some people with the condition, that include liver cancer, cirrhosis of the liver, an abnormally large liver (hepatomegaly), liver failure, and hepatitis. Liver damage from alpha-1 antitrypsin deficiency causes symptom of a swollen abdomen, swollen legs or feet, and jaundice.
Treatment of AATD depends upon the severity of symptoms. FDA approved drug for AATD is an orphan product called alpha-1-proteinase inhibitor (human), sold under the brand name "Prolastin."
Amyotrophic Lateral SclerosisAmyotrophic lateral sclerosis (ALS, Lou Gehrig's disease) is a neurological disease that progresses rapidly. The disease attacks the nerve cells responsible for the control of voluntary muscles. Early symptoms include cramping, twitching, or stiffness of the muscles; slurred nasal speech; difficulty swallowing or chewing, and muscle weakness in an arm or leg. Currently, the cause of ALS is not known. ALS is a fatal disease. No cure has been found for ALS, however, the drug riluzole (Rilutek) is FDA approved, and this drug reduces the damage to motor neurons by decreasing the release of glutamate.
Bipolar SlideshowBipolar disorder (once called manic depression) causes extreme mood shifts and can be disorienting. Our experts define bipolar disorder, discuss bipolar symptoms, and describe bipolar medications that can help.
Breast Cancer (Facts, Stages)Breast cancer is an invasive tumor that develops in the mammary gland. Breast cancer is detected via mammograms, breast self-examination (BSE), biopsy, and specialized testing on breast cancer tissue. Treatment of breast cancer may involve surgery, radiation, hormone therapy, chemotherapy, and targeted therapy. Breast cancer risk may be lowered by managing controllable risk factors.
Cancer CausesThough it's difficult to say why some people develop cancer while others don't, research shows that certain risk factors increase a person's odds of developing cancer. These risk factors include growing older, family history of cancer, diet, alcohol and tobacco use, and exposure to sunlight, ionizing radiation, certain chemicals, and some viruses and bacteria.
HemoglobinHemoglobin is the oxygen-carrying protein molecule in the blood, specifically in the red blood cells. High hemoglobin count may be caused by dehydration, smoking, emphysema, tumors, or abuse of Epogen. Low levels of hemoglobin may be caused by anemia, blood loss, nutritional deficiency, bone marrow problems, chemotherapy, kidney failure, or sickle cell disease.
Hereditary Hemorrhagic TelangiectasiaA genetic disease characterized by the presence of arteriovenous malformations (AVMs) which involve direct connections between arteries and veins without the usual intervening capillaries. See a picture of Hereditary Hemorrhagic Telangiectasia and learn more about the health topic.
Elevated homocysteine levels (hyperhomocysteinemia) is a sign that the body isn't producing enough of the amino acid homocysteine. The condition may be genetic (inherited) called homocystinuria. Homocystinuria is a somewhat rare genetic (inherited) condition that includes symptoms like developmental delays, osteoporosis, blood clots, heart attack, heart disease, stroke, and visual abnormalities died at an early age. There are other causes of the condition like alcoholism.
Supplementing the diet with folic acid and possibly vitamins B6 and B12 supplements can lower homocysteine levels. Currently there is no direct proof that taking folic acid and B vitamins to lower homocysteine levels prevent heart attacks and strokes. Talk to your doctor if you feel you need to have your homocysteine blood levels checked.
PCR (Polymerase Chain Reaction)PCR (polymerase chain reaction) is a method to analyze a short sequence DNA or RNA. PCR (polymerase chain reaction) has many uses, for example, it is used to diagnose genetic diseases, establish paternity or biological relationships, DNA fingerprinting, DNA forensics, and finding bacteria and viruses.
Sweat Chloride TestThe sweat chloride test is a common test used to evaluate a patient suspected of having cystic fibrosis. Cystic fibrosis is a genetic disease common in Caucasians. The sweat chloride test is a fairly simple and painless procedure.
Triglyceride TestTriglycerides are a common form of fat that we digest. Triglycerides are the main ingredient in animal fats and vegetable oils. Elevated levels of triglycerides are a risk factor for heart disease, heart attack, stroke, fatty liver disease, and pancreatitis. Elevated levels of triglycerides are also associated with diseases like diabetes, kidney disease, and medications (for example, diuretics, birth control pills, and beta blockers). Dietary changes, and medication if necessary can help lower triglyceride blood levels.