Download Animal related disease that is due to the

By:
AHMAD SALLEHUDDIN BIN
MUKHTARUDDIN
D11A001 &
ALVIN LEE JIN WEN
D11A003
• poor growth, loss of muscle coordination, muscle weakness,
visual problems, hearing problems, learning disabilities, heart
disease, liver disease, kidney disease, gastrointestinal disorders,
respiratory disorders, neurological problems, autonomic
dysfunction, and dementia.
• the distribution of the defective mitochondrial DNA may vary
from organ to organ within the body, and each mutation is
modulated by other genome variants, the mutation that in one
individual may cause liver disease and cause a brain disorder
in another
• worse when the defective mitochondria are present in
the muscles, cerebrum, or nerves because these cells use more
energy than most other cells in the body.
• The sperm does not contribute any mitochondria to the baby.
Thus an individual's mitochondria are only inherited from his or
her mother. A change in one of the mitochondrial genes that
makes it faulty (mutation) can therefore be passed by the
mother in her egg cells. As most of the mother's egg cells carry
the same mitochondrial mutation, the risk of this mother having
another affected child with the mitochondrial condition is high.
This pattern of inheritance is therefore referred to as maternal
inheritance.
• Mitochondrial myopathy (mitochondria related muscular
disease)
• Diabetes mellitus and deafness (at an early age)
• Leber's hereditary optic neuropathy (visual loss beginning in
young adulthood)
• MELAS syndrome (Mitochondrial encephalomyopathy, lactic
acidosis, and stroke-like episodes – abbreviated to MELAS)
• cardiomyopathy
• vitamins are frequently prescribed, though the evidence for
their effectiveness is limited
• Human genetic engineering is already being used on a small
scale to allow infertile women with genetic defects in
their mitochondria to have children
• Nondisjunction usually occurs as the result of a weakened mitotic
checkpoint, as these checkpoints tend to arrest or delay cell
division until all components of the cell are ready to enter the
next phase.
• Aneuploidy is an abnormal number of chromosomes and is a
type of chromosome abnormality. An extra or missing
chromosome is a common cause of genetic disorders (birth
defects).
• “It is worth noting in this regard that recent studies have
reported a correlation between calcium and vitamin D
deficiency and prostate, colon and breast cancer. Analogs and
metabolites of vitamin D inhibit the growth of prostate cancer
cells in vitro and in vivo, and they have similar inhibitory effects
on breast cancer cells. The correlation between calcium and
vitamin D levels and cancer could be a consequence of the role
of calcium in turning off a centriole-generated polar ejection
force at the onset of anaphase.”
• Problem- Lysosomal disorders are triggered when hydrolytic
enzyme exists in too small an amount or is missing altogether.
When this happens, substances accumulate in the cell. In other
words, when the lysosome doesn’t function normally, excess
products destined for breakdown and recycling are stored in
the cell.
• Causes- Like other genetic diseases, individuals inherit lysosomal
storage diseases from their parents.
• Symptoms- developmental delay, movement disorder
seizures, dementia, deafness and/or blindness,
enlarged livers (hepatomegaly) and enlarged spleens
(splenomegaly),pulmonary and cardiac problems, and bones
that grow abnormally.
• Treatment: bone marrow transplantation and enzyme
replacement therapy (ERT) have been tried with some success,
experimental technique of gene therapy may offer cures in the
future