GENETIC DISORDERS

Prepared by
Raveen Isamel Abdullah
B.CS.in Nursing
Hawler medical university

College of nursing
2016-2017
 OUTLINES
• Genetic disorders
• Heredity of genetic disorders
• Gene mutation and types of mutation
• Diagnosing genetic disorders
• Purpose of diagnosing
• Prognosis
• Treatment
• Huntington’s Disease (HD)
• Down Syndrome
• Duchenne Muscular Dystrophy
 OBJECTIVES
By end of seminar audiences will understand :
• Genetic disorders in general
• The heredity of genetic disorders
• The causes of occurring genetic disorders.
• the most common strategies of diagnosing the gene
disorder
 Genetic disorders
• A genetic disease occurs when a person has
one or more abnormal genes, missing genes,
extra genes, inactivated genes, or overly
active genes that lead to a medical condition.
 Understanding Genetic Disorders
• Genes are the building blocks of heredity. They are passed from parent to
child.
• Genes are found within the cells of all organisms. An individual's genes are
present in a large molecule called deoxyribonucleic acid (DNA).

• They hold DNA, the instructions for making proteins.

• DNA is made up of different combinations of four nucleic acids (adenine,

thymine, cytosine, guanine), which are arranged in different lengths.

• Proteins do most of the work in cells.

• Proteins move molecules from one place to another, build structures, break
down toxins, and do many other maintenance jobs.
•Human cells normally contain 23 pairs of chromosomes.
• One chromosome in each pair comes from father, the other
from mother.
Understanding genetic disorders Cont
• Sometimes there is a mutation, a change in a gene or genes.

• The mutation changes the gene's instructions for making a

protein, so the protein does not work properly or is missing
entirely.

• This can cause a medical condition called a genetic disorder.

• person can inherit a gene mutation from one or both

parents.
 Heredity Of Genetic Disorders
• A person's DNA is contained inside two sets of chromosomes. Each parent
provides one set of 23 chromosomes to his or her offspring. Therefore,
each person has 23 pairs of chromosomes.

• The X and Y chromosomes are called the sex chromosomes because they
distinguish males from females.

• Females have a pair of X chromosomes, while males have one X and one
Y chromosome.

• Certain genetic diseases occur when there are genetic mutations in sex
chromosomes, and these can affect males and females differently.

• To inherit an autosomal recessive trait, a person must inherit two copies

of a mutated gene (one from each parent).
 Heredity Of Genetic Disorders
• Individuals who inherit only one copy of the mutated gene do not
generally experience disease symptoms but are called "carriers"
because they can still pass the trait on to their children.

• Genetic conditions are usually inherited, meaning that they are

passed down from parents to their children.

• However, some genetic disorders occur in individuals with no family

history of the disorder and are instead caused by genetic mutations
that occur during the development of the egg, sperm, or embryo.
 Gene Mutation and Types
• A gene mutation is a permanent alteration in
the DNA sequence that makes up a gene.
Types:
• Acquired Mutations
• Hereditary Mutations
 Heredity mutation
• Hereditary mutations are inherited from a parent and are present
throughout a person’s life in virtually every cell in the body.

• These mutations are also called germ line mutations because they
are present in the parent’s egg or sperm cells, which are also
called germ cells.

• When an egg and a sperm cell unite, the resulting fertilized egg
cell receives DNA from both parents.

• If this DNA has a mutation, the child that grows from the fertilized
egg will have the mutation in each of his or her cells.
 Acquired mutation
• Acquired mutations occur at some time during a person’s life
and are present only in certain cells, not in every cell in the
body.

• These changes can be caused by environmental factors such

as ultraviolet radiation from the sun, or can occur if a mistake
is made as DNA copies itself during cell division.

• Acquired mutations in somatic cells (cells other than sperm

and egg cells) cannot be passed on to the next generation.
 Types Of Genetic Disorders
• Single-gene disorders, where a mutation affects one gene.
o Sickle cell anemia is an example.

• Chromosomal disorders, where chromosomes (or parts of

chromosomes) are missing or changed.
o Chromosomes are the structures that hold our genes.
o Down syndrome is a chromosomal disorder.

• Complex disorders, where there are mutations in two or more

genes.
o Often lifestyle and environment also play a role. Colon cancer is
an example.
 Diagnosing Genetic Disorders
Genetic tests are tests on blood and other tissue to find
genetic disorders

Purpose of genetic tests

• Finding genetic diseases in unborn babies
• Finding out if people carry a gene for a disease and might
pass it on to their children
• Screening embryos for disease
• Testing for genetic diseases in adults before they cause
symptoms
• Making a diagnosis in a person who has disease symptoms
• Figuring out the type or dose of a medicine that is best for a
 Physical Examination
• Certain physical characteristics, such as distinctive facial features, can
suggest the diagnosis of a genetic disorder.

• A geneticist will do a thorough physical examination that may include

measurements such as the distance around the head (head
circumference), the distance between the eyes, and the length of the
arms and legs.

• Depending on the situation, specialized examinations such as nervous

system (neurological) or eye (ophthalmologic) exams may be performed.

• The doctor may also use imaging studies including x-rays, computerized
tomography (CT) scans, or magnetic resonance imaging (MRI) to see
structures inside the body.
 Personal Medical History
• Information about an individual's health, often
going back to birth, can provide clues to a
genetic diagnosis.

• A personal medical history includes past

health issues, hospitalizations and surgeries,
allergies, medications, and the results of any
medical or genetic testing that has already
been done.
 Family Medical History
• Because genetic conditions often run in families,
information about the health of family members
can be a critical tool for diagnosing these
disorders.
• A doctor or genetic counselor will ask about health
conditions in an individual's parents, siblings,
children, and possibly more distant relatives.
• This information can give clues about the diagnosis
and inheritance pattern of a genetic condition in a
family.
 Laboratory Tests
• Genetic testing: Molecular, chromosomal, and
biochemical genetic testing are used to
diagnose genetic disorders.

• Other laboratory tests that measure the levels

of certain substances in blood and urine can
also help suggest a diagnosis.
 Prenatal Diagnosis
• Prenatal diagnosis can detect the presence of
characteristic abnormalities in fetal
development through ultrasound, or detect
the presence of characteristic substances via
invasive procedures which involve inserting
probes or needles into the uterus such as in
amniocentesis.
 Huntington’s Disease (HD)
• Huntington’s Disease (HD) causes the degeneration of the nerve cells in the
brain and central nervous system.

• This hereditary condition is autosomal dominant disorder, meaning that

children have a 50-percent chance of developing it and passing it along to
their own children if one of their own parents has it.

• Treatment aims to limit the course of the disease. HD typically shows

itself when the individual is between 30 and 40-years old—however, rare
forms begin in childhood.

• Symptoms of HD include uncontrolled movement (chorea), difficulty

swallowing, behavioral changes, difficulty balancing and walking, memory,
speech, and cognitive loss.
Huntington’s Disease (HD)
Huntington’s Disease (HD)
Huntington’s Disease (HD)
 Down Syndrome
• Down Syndrome, a common chromosomal abnormality
that effects approximately 1 in 1000 newborns
(particularly in older expectant mothers), results when
an extra copy of genes occurs on chromosome 21.

• Although Downs can be detected by pre-natal testing,

babies affected typically show the following features at
birth—decreased muscle tone in the face,
developmental delays, and heart and digestive system
defects
 Down Syndrome Etiology
• Trisomy 21. the child has three copies of chromosome 21 (instead of the
usual two copies) in all cells. This is caused by abnormal cell division
during the development of the sperm cell or the egg cell.

• Mosaic Down syndrome. In this rare form of Down syndrome, children

have some cells with an extra copy of chromosome 21. This mosaic of
normal and abnormal cells is caused by abnormal cell division after
fertilization.

• Translocation Down syndrome. Down syndrome can also occur when part
of chromosome 21 becomes attached (translocated) onto another
chromosome, before or at conception. These children have the usual two
copies of chromosome 21, but they also have additional material from
chromosome 21 attached to the translocated chromosome.
Down Syndrome
 Duchenne Muscular Dystrophy
• Symptoms of Duchenne Muscular Dystrophy typically show
themselves before the age of 6.

• The condition causes fatigue and weakness of the muscles,

which starts in the legs and then gradually progresses to the
upper body, leaving individuals wheelchair bound by the age
of 12-years-old.

• For some reason the condition affects mostly boys with

symptoms such as heart and respiratory difficulties, deformity
of the chest and back, and potential mental retardation
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy
 Treatment
• Most treatment options revolve around treating the symptoms
of the disorders in an attempt to improve patient quality of life.

• Gene therapy refers to a form of treatment where a healthy

gene is introduced to a patient.

• This should alleviate the defect caused by a faulty gene or slow

the progression of disease.

• A major obstacle has been the delivery of genes to the

appropriate cell, tissue, and organ affected by the disorder.
 Prognosis

• Not all genetic disorders directly result in death,

however there are no known cures for genetic
disorders. Many genetic disorders affect stages of
development such as Down syndrome.

• While others result in purely physical symptoms such

as Muscular Dystrophy.

• Other disorders, such as Huntington's Disease show

no signs until adulthood.
 References
WGBH Educational Foundation
· · Keane MG; Pyeritz RE (May 2008). "Medical management of Marfan syndrome". Circulation. 117 (21): 2802–13. doi:
10.1161/CIRCULATIONAHA.107.693523. PMID 18506019.
· · Walker FO (2007). "Huntington's disease". Lancet. 369 (9557): 218–28 [221]. doi:10.1016/S0140-6736(07)60111-1. PMID 17240289.
· · "Genetic link to 4,000 diseases". Archived from the original on 2014-12-23.
· · Williams T. N.; Obaro S. K. (2011). "Sickle cell disease and malaria morbidity: a tale with two tails". Trends in Parasitology. 27 (7): 315–320.
· · Kuliev A; Verlinsky Y (2005). "Preimplantation diagnosis: A realistic option for assisted reproduction and genetic practice". Curr. Opin.
Obstet. Gynecol. 17 (2): 179–83. doi:10.1097/01.gco.0000162189.76349.c5. PMID 15758612. Retrieved 2009-04-01.
· · Griffiths, Anthony J.F.; Wessler, Susan R.; Carroll, Sean B.; Doebley, John (2012). "2: Single-Gene Inheritance". Introduction to Genetic
Analysis (10th ed.). New York: W.H. Freeman and Company. p. 57. ISBN 978-1-4292-2943-2.
· · Griffiths, Anthony J.F.; Wessler, Susan R.; Carroll, Sean B.; Doebley, John (2012). Introduction to Genetic Analysis (10th ed.). New York: W.H.
Freeman and Company. p. 58. ISBN 978-1-4292-2943-2.
· · Wade, Nicholas (January 29, 2006). "Japanese Scientists Identify Ear Wax Gene". New York Times.
· · Yoshiura K; Kinoshita A; Ishida T; et al. (March 2006). "A SNP in the ABCC11 gene is the determinant of human earwax type". Nat. Genet.
38 (3): 324–30. doi:10.1038/ng1733. PMID 16444273.
· · Milunsky, edited by Aubrey (2004). Genetic disorders and the fetus : diagnosis, prevention, and treatment (5th ed.). Baltimore: Johns
Hopkins University Press. ISBN 0801879280.
· · "Diagnostic Tests – Amniocentesis". Harvard Medical School. Archived from the original on 2008-05-16. Retrieved 2008-07-15.
· · Ginn, Samantha L.; Alexander, Ian E.; Edelstein, Michael L.; Abedi, Mohammad R.; Wixon, Jo (February 2013). "Gene therapy clinical trials
worldwide to 2012 - an update". The Journal of Gene Medicine. 15 (2): 65–77. doi:10.1002/jgm.2698.
· Verma, I. M. (22 August 2013). "Gene Therapy That Works". Science. 341 (6148): 853–855. doi:10.1126/science.1242551.