What are human genetic diseases?
Human genetic disease are disorders that are caused by
mutations which affects one or more genes or, in the case that
a wrong amount of genetic material has been produced.
A genetic disorder is a disease caused in whole or in part by a change
in the DNA sequence away from the normal sequence. Genetic
disorders can be caused by a mutation in one gene (monogenic
disorder), by mutations in multiple genes (multifactorial inheritance
disorder), , or by damage to chromosomes (changes in the number or
structure of entire chromosomes, the structures that carry genes).
Genetic disorders on genes
An offspring always receives half the genes from each biological
parent and may inherit a gene mutation from one parent or
both. Some genetics disorders can be detected since birth,
while other develop over time.
There two kinds of genetic diseases that are linked to genes:
-Multifactorial disorder: These disorders stem from a
combination of gene mutations and other factors. They include
chemical exposure, diet, certain medications and tobacco or
alcohol use.
Multifactorial disease occurs when more than 1 factor causes a
trait or health problem, such as a birth defect or chronic illness.
Genes can be a factor, but other things that are not genes can
play a part, too.
- monogenic disorder: This group of conditions occurs from a
single gene mutation. Monogenic diseases are genetic
disorders caused by modifications in a single gene
occurring in all cells of the body.
An example of multifactorial disease can be:
- Diabetes
Types 1 and 2 diabetes appear to be caused by an interplay of
genetic, environmental, and lifestyle factors.1 Over the years,
researchers have found an array of specific genes that are linked to
diabetes risk.
The genes that have been identified have diverse functions and
duties which can affect blood sugar (glucose) control. Such functions
include controlling the release of insulin, pumping glucose into cells,
and speeding up the breakdown of glucose.
Some of the genes that are linked in developing type 2 diabetes are:
CAPN10: This gene encodes enzymes that degrade proteins. It
was the first gene that scientists confirmed had a definitive link
with type 2 diabetes.
ABCC8: This gene may impair the release of insulin.
A person’s genes can make them more susceptible to developing
type 2 diabetes, and the disease has a stronger link to family
history than type 1 diabetes. But environmental factors such as
diet and exercise can influence whether genes express, and
diabetes develops.
Some examples of monogenic disease may include:
-Cystic fibrosis
Cystic fibrosis occurs when both genes in the pair have a mutation. Cystic fibrosis
is a genetic disorder caused by inheriting a pair of genes that are mutated or not
working properly.
Cystic fibrosis is an inherited disease caused by mutations in
a genes called the cystic fibrosis transmembrane
conductance regulator (CFTR) gene. The CFTR gene provides
instructions for the CFTR protein. The CFTR protein is located
in every organ of the body that makes mucus, including the
lungs, liver, pancreas, and intestines, as well as sweat glands.
The CFTR protein has also been found in other cells in the
body, such as cells of the heart and the immune system. The
mutations in the CFTR gene cause the CFTR protein to not
work properly. This causes thick, sticky mucus and blockages
in the lungs and digestive system.
- Tay-Sachs
Tay-Sachs disease affects the nerve cells in the brain and spinal
cord. Babies with Tay-Sachs lack a particular enzyme, which is a
protein that triggers chemical reactions in cells. The lack of the
enzyme, hexosaminidase A, causes a fatty substance to collect.
The buildup of this substance, GM2 ganglioside (variant is a
rare inherited disorder that progressively destroys nerve
cells in the brain and spinal cord), leads to Tay-Sachs
symptoms such as muscle weakness.
Genetic disorders that affect the chromosome is the
Chromosomal disorder: is a missing, extra, or irregular
portion of chromosomal DNA. These can occur in the form
of numerical abnormalities, where there is an atypical number
of chromosomes, or as structural abnormalities, where one or
more individual chromosomes are altered.
Some examples of chromosomal disorders are:
-down syndrome
People with Down syndrome are born with an extra
chromosome, which changes the way their brain and body
develop.
Down syndrome is a genetic disorder. Most babies are born
with 23 pairs of chromosomes within each cell for a total of 46.
Most babies with Down syndrome are born with an extra copy
of chromosome 21, with three copies of the chromosome
instead of the usual two.
As a result, people born with Down syndrome face some
physical and mental challenges throughout life. They typically
have distinctive body and facial features that set them apart.
They are more likely to develop slowly and are more at risk for
some medical conditions.
- Fragile X syndrome (FXS), also known as Martin-Bell
syndrome, is an inherited condition that causes developmental
delays, intellectual disabilities, learning and behavioral issues,
physical abnormalities, anxiety, attention-deficit/hyperactivity
disorder and/or autism spectrum disorder, among other
problems. The genetic defect underlying the syndrome occurs
in a gene known as FMR1 (fragile-X mental retardation 1),
which is located in the fragile site of the X chromosome. The
symptoms of fragile-X syndrome result from the complete or
partial loss of a protein known as FMRP (fragile-X mental
retardation protein). FMRP plays an important role in
the brain, facilitating the development and maturation
of synapses (connections) between neurons.
- Klinefelter syndrome
A typical male has a total of 46 chromosomes (packages of
DNA) – one copy of an X chromosome and one copy of the Y
chromosome (46, XY). There are a number of different
conditions where an individual may have more or less than the
expected X or Y chromosomes. Klinefelter syndrome (KS) is a
genetic condition where there’s an extra X chromosome
present in a male’s genetic code. Instead of having a total of 46
chromosomes, they have 47 — with two copies of the X
chromosome and one copy of the Y chromosome (47, XXY).
Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than
normal testicles, which can lead to lower production of testosterone. The syndrome
may also cause reduced muscle mass, reduced body and facial hair, and enlarged
breast tissue. The effects of Klinefelter syndrome vary, and not everyone has the same
signs and symptoms.
