Lysosomal storage disease - umk carnivores 3

kissimmeemisologistBiotechnology

Dec 14, 2012 (4 years and 10 months ago)

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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