St.

Benedicts Academy
Guinobatan, Albay

Genetic Diseases
(Case Study)

Jelo Andre A. Tolentino

Genetic Disorder

A genetic disorder is a disease that is caused by an abnormality in an individuals DNA.

Abnormalities can be as small as a single-base mutation in just one gene, or they can involve the
addition or subtraction of entire chromosomes. A genetic disease is any disease that is caused by
an abnormality in an individuals genome, the persons 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.

There are a number of different types of genetic inheritance, including the following four modes:
Single gene inheritance
Multifactorial inheritance
Chromosome abnormalities
Mitochondrial inheritance

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:
Cystic fibrosis
Sickle Cell Anemia
Marfan Syndrome
Hemachromatosis
Cystic Fibrosis
Cystic Fibrosis is an inherited disease that affects the secretory glands, including the mucus and
sweat glands. Cystic fibrosis mostly affects the lungs, pancreas, liver, intestines, sinuses, and sex
organs.
CF is characterized by the production of abnormal mucus that is excessively thick and sticky.
The abnormal mucus leads to blockages within the lungs and airways. This leads to repeated,
serious lung infections that can damage the lungs.
Every person inherits two CFTR genes -- one from each parent. CF is inherited in an autosomal
recessive manner; children who inherit a faulty gene from each parent will have cystic fibrosis.

Sickle Cell Anemia

Sickle cell anemia is an inherited disorder of the hemoglobin in blood. Sickle cell anemia (sickle
cell disease) is a disorder of the blood caused by an inherited abnormal hemoglobin (the oxygen-
carrying protein within the red blood cells). The abnormal hemoglobin causes distorted (sickled)
red blood cells. The sickled red blood cells are fragile and prone to rupture. When the number of
red blood cells decreases from rupture (hemolysis), anemia is the result. This condition is
referred to as sickle cell anemia. The irregular sickled cells can also block blood vessels causing
tissue and organ damage and pain.

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

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 influence breast 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:

Heart Disease
High Blood Pressure
Cancer
Obesity

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.

High Blood Pressure

High blood pressure or hypertension is defined as high pressure (tension) in the arteries, which
are the vessels that carry blood from the heart to the rest of the body.
Blood pressure readings are given as two numbers. The systolic blood pressure (the top number)
equals the pressure in the arteries as the heart contracts. The diastolic pressure (the bottom
number) is the pressure in the arteries as the heart relaxes. Normal blood pressure is below
120/80; blood pressure between 120/80 and 139/89 is called "pre-hypertension, and a blood
pressure of 140/90 or above is considered high while a systolic blood pressure of about 90 to 100
is considered low blood pressure

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.

Examples of mitochondrial disease include:

*an eye disease called Leber's hereditary optic atrophy;

*a type of epilepsy called MERRF which stands for myoclonic epilepsy with Ragged Red Fibers;
and
*a form of dementia called MELAS for mitochondrialencephalopathy, lactic acidosis and stroke-
like episodes.
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.