Professional Documents
Culture Documents
Benedicts Academy
Guinobatan, Albay
Genetic Diseases
(Case Study)
There are a number of different types of genetic inheritance, including the following four modes:
Single gene inheritance
Multifactorial inheritance
Chromosome abnormalities
Mitochondrial inheritance
Marfan Syndrome
Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose
of connective tissue is to hold the body together and provide a framework for growth and
development. In Marfan syndrome, the connective tissue is defective and does not act as it
should. Because connective tissue is found throughout the body, the syndrome can affect many
body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin, and
Lungs.
Hemochromatosis
Hereditary hemochromatosis is an inherited (genetic) disorder in which there is excessive
accumulation of iron in the body (iron overload). It is a common
genetic disorder among Caucasians in the United States, affecting approximately 1 to 6 people in
the United States. Individuals affected with hereditary hemochromatosis may have no symptoms
or signs (and have normal longevity), or they can have severe symptoms and signs of iron
overload that include sexual dysfunction, heart failure, joint pains, cirrhosis of the liver, diabetes,
fatigue, and darkening of skin.
Multifactorial Inheritance
Heart Disease
The heart is like any other muscle in body. It needs an adequate blood supply to provide oxygen
so that the muscle can contract and pump blood to the rest of the body. Not only does the heart
pump blood to the rest of the body, it also pumps blood to itself via the coronary arteries. These
arteries originate from the base of the aorta (the major blood vessel that carries oxygenated blood
from the heart) and then branch out along the surface of the heart.
Cancer
In the most basic terms, cancer refers to cells that grow out-of-control and invade other tissues.
Cells may become cancerous due to the accumulation of defects, or mutations, in their DNA.
Certain inherited genetic defects (for example, BRCA1 and BRCA2 mutations) and infections
can increase the risk of cancer. Environmental factors (for example, air pollution) and poor
lifestyle choicessuch as smoking and heavy alcohol usecan also damage DNA and lead to
cancer.
Most of the time, cells are able to detect and repair DNA damage. If a cell is severely damaged
and cannot repair itself, it usually undergoes so-called programmed cell death or apoptosis.
Cancer occurs when damaged cells grow, divide, and spread abnormally instead of self-
destructing as they should.
Obesity
The definition of obesity varies depending on what one reads. In general, overweight and obesity
indicate a weight greater than what is considered healthy. Obesity is a chronic condition defined
by an excess amount of body fat. A certain amount of body fat is necessary for storing energy,
heat insulation, shock absorption, and other functions.
Obesity is best defined by using the body mass index. The body mass index is calculated using a
person's height and weight. The body mass index (BMI) equals a person's weight in kilograms
(kg) divided by their height in meters (m) squared. Since BMI describes body weight relative to
height, it is strongly correlated with total body fat content in adults. An adult who has a BMI of
25-29.9 is considered overweight, and an adult who has a BMI over 30 is considered obese. A
BMI of 18.5-24.9 is considered normal weight.
Chromosome Abnormalities
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.
Mitochondrial Inheritance
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.
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.