3. An organelle is a membrane bound structure found within a cell.
These mini-organs are bound in a double layer of phospholipids to insulate their little
compartments within the larger cells.
The cell organelles are found in the cytoplasm, which is a viscous liquid found within the
cell membrane that houses the organelles and is the location of most of the action
happening in a cell.
A disease is a particular abnormal condition that affects part or all of an organism caused
by external force and that consists of a disorder of a structure or function, usually serving
as an evolutionary disadvantage.
It is often used more broadly to refer to any condition that causes pain, dysfunction,
distress, social problems, or death to the person afflicted, or similar problems for those in
contact with the person.
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5. Lysosomes are cell organelles that break down the waste
materials inside the cells.
Tay-Sachs disease is related to the malfunction of the lysosomes.
Itis a rare, neurodegenerative disorder in which deficiency of an
enzyme (hexosaminidase A) results in excessive accumulation of
certain fats lipids known as gangliosides in the brain and nerve
cells.
When too much fatty material builds up in the lysosome, it
becomes toxic destroying the cell and damaging surrounding
tissue.
This abnormal accumulation of gangliosides leads to progressive
dysfunction of the central nervous system.
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6. SIGNS AND SYMPTOMS
Tay-Sachs disease is broken down into the classic or infantile form, the juvenile
form, and the adult or late-onset form. In individuals with infantile Tay-Sachs
disease, symptoms typically first appear between three and five months of age. In
individuals with the late-onset form, symptoms may become apparent anytime
from adolescence through the mid-30s.
Symptoms of Tay-Sachs in infants include:
Deafness
Progressive blindness
Decreased muscle strength
Increased startle response
Paralysis or loss of muscle function
Seizure
Muscular stiffness (spasticity)
Delayed mental and social development
Slow growth
Red spot on the macula (an oval-shaped area near the centre of the retina in
the eye)
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7. DIAGNOSIS
Tay-Sachs disease can be diagnosed before birth, through amniocentesis or
chorionic villus sampling.
In amniocentesis, a needle is inserted into the uterus through the abdomen
and a sample of amniotic fluid is removed for testing.
In chorionic villus sampling (CVS), a thin tube is inserted through the cervix
and is used to extract a small sample of the placenta for testing.
EXPECTED DURATION
Tay-Sachs disease is a lifelong condition
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8. TREATMENT AND PREVENTION
Since there's no cure for Tay-Sachs disease, the goal of treatment is support and comfort.
Medication: To reduce your child's symptoms, a number of prescription medications are
available, including seizure medications.
Respiratory care: Children who have Tay-Sachs disease are at high risk of lung
infections that cause breathing problems and frequently accumulate mucus in their
lungs. Respiratory therapists at Mayo Clinic have extensive experience in reducing the
mucus using chest physiotherapy (CPT) and in training family members to provide CPT
to your child at home.
Physical therapy: As the disease progresses, your child may benefit from physical
therapy to help keep joints flexible and maintain as much ability to move (range of
motion) as possible. Physical therapy can delay joint stiffness and reduce or delay the loss
of function and pain that can result from shortened muscles.
Family support: Your child's clinic treatment team can provide resources and
information to help you and your family cope with your child's needs. Your team can help
connect you to local support groups.
Follow-up care and coordination: Your clinic doctor will provide treatment and
follow-up care for your child and will coordinate the treatment and support plan with
your child's primary care doctor or paediatrician
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9. Diabetes mellitus and deafness is a subtype of diabetes which is caused from a point
mutation at position 3243 in human mitochondrial DNA, which consists of a circular
genome.
These genes are instruction for making specific tRNAs .
They are used in adding amino acids in the right location of a protein. The mutations
decrease the ability to add amino acids, including the ability to help signal insulin. This
leads to diabetes.
The impaired mitochondria affect the most active cells, for example, the cochlea (in the ear).
Since mitochondrial DNA is contributed to the embryo by the oocyte and not
by spermatozoa, this disease is inherited from maternal family members only.
It is characterized by diabetes and sensorineural hearing loss.
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10. SIGNS AND SYMPTOMS:
There are many different ways the disorder can affect the body.
When they appear, and how severe the symptoms are depend from person to
person
Type 2 diabetes- dependence on insulin
Symptoms include:
Deafness: the most common symptom
with diabetes
Shorter height/ thinner
Heart Problems
Myopathy (Muscle Weakness)
Kidney diseases
Retina/Eye problems
Gastrointestinal (Stomach/Intestine) Diseases
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11. TREATMENTS:
Diabetes: First treated with dietary changes, or tablets. Within 2 years,
insulin therapy
Deafness: Rarely leads to total deafness. Hearing aids/ implants are
helpful . periodic checkups on other functions (i.e vision, kidneys, etc.)
should be done. If a disorder is found, specific medication/therapy is
used.
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12. Peroxisomes are cell organelles, that are very similar to lysosomes, have digestive enzymes
which require oxygen to break down the toxic materials inside the cells.
Adrenoleukodystrophy (ALD) is caused by malfunction of the peroxisomes . It is a disease
which caused by the accumulation of very-long chain fatty acids in tissues throughout the
body.
The accumulation happened because the peroxisomes lacked the second most abundant
protein in the outer membrane of this organelle.
Normally, the missing protein transports an enzyme into the peroxisome. The enzyme
controls breakdown of a type of very long chain fatty acid. Without the enzyme, the fatty
acid builds up in cells in the brain and spinal cord, eventually stripping these cells of their
fatty sheaths, made of a substance called myelin, that are vital for nerve transmission.
The result of this is that the person will show abnormal withdrawal or aggression, poor
memory, and poor school performance in children and progressive stiffness, weakness or
paralysis of the lower limbs, and ataxia in adults.
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13. SIGNS AND SYMPTOMS
muscle spasms
seizures
trouble swallowing
loss of hearing
crossed eyes
impaired vision
hyperactivity
paralysis
coma
deterioration of fine motor control
trouble with language comprehension
stiffness in the legs
difficulty thinking and remembering visual perceptions
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14. TREATMENTS:
Treatment methods depend on the type of ALD you have . Steroids can be used to
treat Addison’s disease. There are no specific methods for treating the other
types of ALD.
switching to a diet that contains low levels of VLCFAs
taking Lorenzo’s oil to help lower elevated VLCFA levels
taking medications to relieve symptoms such as seizures
doing physical therapy to loosen muscles and reduce spasms
Doctors continue to look for new ALD treatments. Some doctors are
experimenting with bone marrow transplants. If children with childhood
cerebral ALD are diagnosed early, these experimental procedures may be able
to help.
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15. The function of the Golgi apparatus is to modify, sort and package the
macromolecules that are synthesized by the cells for secretion purposes or for
use within the cell.
They are also involved in the transport of lipid molecules around the cell and
create lysosomes.
Achondrogenesis type 1A is caused by a defect in the microtubules of the
Golgi apparatus.
Achondrogenesis is a rare and severe group of genetic disorders that results in a
short trunk, small limbs, and a narrow chest.
It occurs when a person’s body does not produce enough growth hormone. As a
result, cartilage and bone do not develop properly, causing abnormalities in the
skeletal system.
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16. SIGNS AND SYMPTOMS
Type 1A Symptoms
soft skull bone
poorly formed spine and pelvic bones
short and easily breakable ribs
Type 1B Symptoms
round belly
pouch near the belly button
short toes and fingers
inwardly rotated feet
Type 2 Symptoms
short ribs
poorly developed lungs
cleft palate
small chin
large forehead and belly
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17. DIAGNOSIS
Achondrogenesis is diagnosed by physical features, X-ray (radiographic)
findings and examination of tissue samples under a microscope (histology).
Molecular genetic tests for mutations in the SLC26A2 gene can be used to
confirm the diagnosis of achondrogenesis type 1B.
Prenatal diagnosis of achondrogenesis by ultrasound is possible after 14-15
weeks gestation. Prenatal diagnosis by chorionic villus sampling (10-12 weeks
gestation) or amniocentesis (15-18 weeks gestation) is possible if the specific
gene mutations have been identified in a family member.
TREATMENTS:
Babies born with achondrogenesis usually die quickly because their small
chests don’t allow them to breathe. Many die in utero. However, since its
genetical, families that have this gene might have to rethink their decision to
have a baby.
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18. Overall, we have learned that the failure by the cell organelle to function in a
state of normalcy leads to a number of crippling diseases that might extend
throughout a lifetime or in severe cases lead to death.
With the advent of smarter technologies and devices, there has been a steady
amelioration in the medical field. And by the end of the century there is and
has always been a hope for a disease-free and untarnished mankind.
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