This document discusses several genetic disorders and diseases:
1. It lists 13 genetic diseases including Gaucher Disease, Huntington's Disease, Hemophilia, Parkinson's Disease, and Cystic Fibrosis.
2. It categorizes genetic disorders into four types - single gene disorders, multifactorial disorders caused by multiple genes and environment, chromosomal abnormalities, and mitochondrial disorders.
3. It provides brief descriptions of some specific genetic disorders like Gaucher Disease caused by enzyme deficiency, Huntington's Disease causing uncontrolled movements, and Hemophilia being a bleeding disorder linked to the X chromosome.
3.
1. Single Gene:
› Disorders caused by abnormality or mutation in the
sequence of one gene
2. Multifactorial:
› Caused by a combination of environmental as well as
mutations in multiple genes
3. Chromosomal:
› Abnormalities in chromosome structure such as
missing or extra copies
4. Mitochondrial:
Caused by a mutation in the non chromosomal DNA
›
of the mitochondria.
4.
Gaucher disease is a genetic disorder handed down
from generation to generation. It is the most common
of the lipid storage diseases. It is caused by
deficiency of the enzyme, β-glucocerebrosidase.
When there is not enough of the enzyme, the fat can
not be broken down and is stored primarily in the
liver and spleen
Other body tissues, bones and organs may also be
affected. In rare cases, it may also accumulate in the
brain.
6.
In the past the only potential treatment was removal
of the spleen (splenectomy).
This has given way to injections of a replacement
synthetic enzyme (Cerezyme/Ceredase).
Gene therapy is an experimental approach.
A novel oral treatment has recently been evaluated.
This drug is known as N-butyldeoxynojirimycin
(OGT 918).
The mechanism of action is by inhibiting the
formation of glucocerebroside ( important
components in animal muscle and nerve cell
membranes.)
7. Huntington’s
Disease results from
genetically programmed degeneration
of nerve cells in certain areas of the
brain.
This degeneration causes
uncontrolled movements, loss of
intellectual faculties, and emotional
disturbance.
8.
Early signs of Huntington’s disease
include mood swings and irritability,
depression, loss of memory, and
uncontrolled movements.
As the disease progresses, walking
and speech become more difficult,
and memory and intellectual
functions continue to decline.
9. Hemophilia is the oldest known bleeding
disorder.
It is a sex-linked disorder, which is why it
appears mostly in males.
Hemophilia is like any other sex-linked
disorder, because the “hemophilia” gene is on
the X chromosome.
2 types of Hemophilia:
› Hemophilia A: Lack the blood clotting
protein factor VIII
› Hemophilia B: Lack the blood clotting
protein factor IX.
10.
11.
Clotting factors: Given in differing doses
according to the weight of the individual and the
severity of the bleeding.
Recombinant DNA Techniques: Clotting factor
genes are grown synthetically.
Clotting factor products from human blood
plasma are not used due to chances of being
contaminated with viruses such as HIV or
Hepatitis.
During the 1990s it became possible to prepare
synthetic (recombinant) factors, using specially
prepared mammalian cells and these recombinant
concentrates are now widely used.
12. Gene Therapy
› A major focus of research in hemophilia centers.
› Because only one defective gene is involved,
replacing that gene effectively may cure
hemophilia.
› Although gene therapy may eventually replace
treatment for individuals with hemophilia, it will
not eliminate defective genes in carriers, who
could still pass hemophilia to their children.
› Currently studies are being conducted for type B
hemophilia to determine the safety of the gene
transfers.
13. Parkinson’ s disease is a
neurological condition
that has a genetic
component next to
Alzheimer’s.
The chance of getting or
developing Parkinson’s
gets higher as age
increases.
14. DOPAMINE Chemical produced in the middle part of the brain
that is responsible for organizing coordinated movements and to
send this signal to the control centers of the brain.
•In Parkinson’s disease, this chemical is not produced enough and
functioning starts to shut down slowly & patient begins to lose
control over many vital voluntary movements from swallowing to
walking.
SYMPTOMS Some symptoms include hand tremor, muscle
spasms, rigidity, lack of postural stability, memory loss,
blurriness, drooling, and difficulty in voluntary movements.
15. Rare metabolic autosomal recessive disorder
Affects protein breakdown in the liver resulting in mental
retardation & genetic Mutation occurs on Chromosome 12
The mutated gene is supposed to code for a protein which
produces phenylalanine hydroxylase
Without phenylalanine hydroxylase, phenylalanine (found in
protein rich foods) cannot be converted to tyrosine
Excess phenylalanine in the body will result in mass
production of phenylpyruvic acid
Phenylpyruvic acid cannot be absorbed by the kidney and thus
excess phenylalanine and phenylpyruvic acid enters
cerebrospinal fluid and then the brain causing severe mental
retardation.
17. •
If Untreated in Infants:
•Severe brain damage
•Epilepsy
•Behavioral Problems
•Stunted growth
•Symptoms Throughout Life if Treatment is not Followed Closely:
•Musty body odor
•Increased muscle tone
•Fair skin
•Vomiting
•Active muscle tendon reflexes
18. •Due to the large amount of research done in
Phenylketonuria patients can live a normal life while
adhering to a strict protein-free diet
•Research is still being done to determine if there is a
better biochemical model for the effects of PKU on the
body
•If more detailed biochemical pathways of the effects of
PKU can be determined there may be a method of
introducing necessary chemical properties into the body,
preventing some of the long term effects of PKU.
22.
An inherited disease
that affects sodium
channels in the body
and causes respiratory
and digestive problems.
23.
There is no cure for Cystic Fibrosis and treatment
can slow progression of the disease
One in 25 people carry the gene but will have no
symptoms
CF is usually diagnosed at birth
CF is not contagious
CF occurs in males and females.
24.
Caused by genetic mutation in a
single gene on chromosome 7.
Gene contains building info for
CFTR(Cystic
fibrosis
transmembrane conductance
regulator (CFTR)
is
a protein that in humans is
encoded by the CFTR gene.)
Mutation causes a CFTR that
won’t open.
25.
Excessive production of thick, sticky mucus in
the airways
Affects tissues in the airway, gastrointestinal
tract, ducts of the pancreas, the bile ducts of the
liver, and the male urogenital tract
Causes difficultly clearing infections and can
result in lung damage over a period of time.
26.
Persistent cough, with great physical effort
Some difficulty breathing
Tiredness, lethargy or an impaired exercise ability
Frequent visits to the toilet
Salt loss in hot weather which may produce muscle
cramps or weakness
Poor appetite.
27.
Chest physiotherapy
Antibiotics
Inhalations via a compressed air pump and
nebuliser
Enzyme replacement capsules with meals and
snacks
A well balanced diet high in protein, fat and
kilojoules
Supplementary vitamins
Salt supplements
Regular exercise.
28.
Down syndrome is caused by an extra chromosome
present on chromosome 21
› Down syndrome is caused by mutations
› Forms of Down syndrome
Klinefelter’s disease(Klinefelter syndrome,
also known as the XXY condition, is a term
used to describe males who have an extra X
chromosome in most of their cells. )
Turner’s syndrome(Turner syndrome is a
chromosomal condition related to the X
chromosome that alters development in
females.It
leads
to
infertility,webbed
neck,lymphedema, skeletal abnormalities,
heart defects and kidney problems.)
29.
Philadelphia
chromosome
(Philadelphia
chromosome or Philadelphia translocation is
a specific chromosomal abnormality that is
associated
with chronic
myelogenous
leukemia (CML). It is the result of a
reciprocal translocation between chromosome 9
and 22,)
› A genetic form of Down syndrome:
Mosaicism:Mosaicism is a condition in which cells
within the same person have a different genetic
makeup. This condition can affect any type of cell,
including:
Blood cells
Egg and sperm cells (gametes)
Skin cells
30.
31.
There is no single, standard treatment for Down syndrome.
Treatments are based on each individual's physical and intellectual
needs as well as his or her personal strengths and limitations.
Treatment Therapies
Physical therapy includes activities and exercises that help build
motor skills, increase muscle strength, and improve posture and
balance.
Speech-language therapy can help children with Down syndrome
improve their communication skills and use language more
effectively.
Occupational therapy helps find ways to adjust everyday tasks and
conditions to match a person's needs and abilities.
Emotional and behavioral therapies work to find useful responses
to both desirable and undesirable behaviors.
32.
Alzheimers is a form of dementia that causes
changes in the brain, and affects a person’s memory,
mood, and behavior.
Disease mostly affects people over 65.
Diagnosis:
› There is no specific test for Alzheimer’s disease,
however, physician are able to look at a person’s
medical history, do a complete physical or give a
memory and/or psycological test to see how well
the brain works.
› Brain scan.
33.
Severe combined immunodeficiency (SCID) represents a group of rare,
sometimes fatal, congenital disorders characterized by little or no
immune response. The defining feature of SCID, commonly known as
"bubble boy" disease, is a defect in the specialized white blood cells (Band T-lymphocytes) that defend us from infection by viruses, bacteria
and fungi. Without a functional immune system, SCID patients are
susceptible to recurrent infections such as pneumonia, meningitis and
chicken pox, and can die before the first year of life. Though invasive,
new treatments such as bone marrow and stem-cell transplantation save
as many as 80% of SCID patients.
All forms of SCID are inherited, with as many as half of SCID cases
linked to the X chromosome, passed on by the mother.
It is also known as the bubble boy disease because its victims are
extremely vulnerable to infectious diseases and some of them, such
as David Vetter, become famous for living in a sterile environment.
35.
The most common treatment
for SCID is bone marrow
transplantation.
David Vetter, the original
"bubble boy", had one of the
first transplantations, but
eventually died because of an
unscreened virus, EpsteinBarr (tests were not available
at the time), in his newly
transplanted bone marrow
from his sister, an unmatched
bone marrow donor.
36.
37.
Severe disorder from an array of the Autism
Spectrum Disorders (ASD)
Another common form of ASD is Asperger
Syndrome
Developmental disorder affects parts of brain,
notably the amygdala {are almond-shaped groups
of nuclei located deep and medially within
the temporal lobes of the brain}, hippocampus{plays
important roles in the consolidation of information
from short-term memory to long-term memory},and
cerebellum
› immune system, and gastrointestinal tract
1 out of 150 people are affected
More prevalent in males than in females.
41. •Stem cell collected from adult
can be harvested from many area
including the bone marrow.
•Alternative to Embryonic Stem
cells
•Potential to reverse and cure
Diabetes
42. •Use undifferentiated cell from
embryos and cultures them to
grow into need cells
•Many ethical and social concerns
surrounding this research
•Neurons Grown from Embryonic
Stem Cells Restore Function in
Paralyzed Rats
•Hold potential cures for 1000s of
diseases many genetic disorders.
43. •This treatment is aimed at
women who would pass on a
genetic defect to the child.
•Also helps women who suffer
with mitochondria disease.
•Faulty genes are removed from
the embryo , and replaced by
healthy genes from the
additional woman.
44. •Using stem cells to replace
or create tissues and organs
•Currently heart tissues and
full bladders are being grow
in lab
Fig. Stem cell treatments and
tissues recreated in the heart
of a child
Notas del editor
When talking of statistics “Parkinson disease affects 1 in 100 people over the age of 60, with the average age of onset being 60 years. It can also affect younger people. Young-onset Parkinson disease (onset at age 40 or younger) is estimated to occur in 5 – 10% of patients with PD”(Lieberman).
- Because the shut down of the functioning of the brain is so slow, it is very difficult to detect it at the beginning…