TAY-SACHS by Morgan M.

DESCRIPTION - What is Tay-Sachs?
    Tay-Sachs is a disease that happens to babies when developing into their form and abilities. When developing, infants get their abilities of sight, movement, hearing and much more because of enzymes that clear fatty proteins. But babies with Tay-Sachs do not get those enzymes causing the fatty tissue to grow. It all builds in the brain causing the babies to lose abilities so they are unable to do many activities. This disease affects many (Ashkenazi) Jews in the United States each year. The way the baby can get this is by the parents carrying the genetic mutation of Tay-Sachs so the disease is given to their offspring.  Usually at the age of four or five, the baby will die from this disorder. 
 

In a healthy neuron, top, lysosomes act as the waste processing center of the cell. In Tay-Sachs disease, genetic deficiencies hobble lysosome enzymes that break down fatty cell products, also known as gangliosides, which build up and destroy the cell.

 
 
SYMPTOMS 
The first symptoms that will appear in the baby with Tay-Sachs:
  • Seizures
  • Noticeable behavior changes, such as the infant stops smiling, crawling or rolling over and loses the ability to grasp or reach out
  • Increased startle reaction
  • Decreased eye contact
  • Listlessness
  • Increasing irritability
  • Slow body growth with increasing head size
  • Delayed mental and social skills

After Tay-Sachs has effected the toddler for a certain amount of time, these new symptoms are noticed:

  • Feeding difficulties
  • Abnormal body tone
  • Loss of motor skills
  • Blindness
  • Deafness
  • Loss of intellectual skills
An early sign of the infantile form of Tay-Sachs is a red spot on the retina.
 

Changes in the infant's eye at onset of Tay-Sachs
Tay-Sachs is an inherited disease, caused by mutations in a gene or chromosome.
 
TREATMENT
Unfortunately there is no treatment for Tay-Sachs disease but medications can be used to control seizures. Proper nutrition and hydration are important to keep airways open in babies and children who have Tay-Sachs. Children often need to be fed through a feeding tube.
 
PROGNOSIS
Children with Tay-Sachs disease have very short lives and most die by the age of 4 or 5 from recurring infection.
 
EARLY DIAGNOSIS
 Although there is no cure for Tay-Sachs, this disease can be diagnosed before a baby is born. Amniocentesis, a prenatal test, can be done on the mother durign the 15th and 20th week of pregnancy. For this test, a doctor takes a sample of the fluid around the fetus by inserting a needle into the mother's abdomen. If the test shows that hex A is missing, the baby will have classis Tay-Sachs disease.
 
RESEARCH
The National Institute of Neurological Disorders and Stroke (NINDS), does research about Tay-Sachs in laboratories at the National Institutes of Health (NIH) but no cure has been found for this disease.
 
GENETICS
 
Tay-Sachs is found in descendants of Central and Eastern Europeans Jews. Many American Jews, 1 out of 20, carries a mutation in the gene that codes for hex A (9). Tay-Sachs is caused by mutations in a gene on chromosome 15 and is passed on through parents who carry one of these mutations.  The illness does not effect the parent or carrier, only the child. If both parents are carriers:
  •  There is a 25% chance that their child will inherit the gene mutation and have Tay-Sachs.
  •  There is a 25% chance that their child will inherit the normal gene from each parent. If this happens, the child will not have Tay-Sachs and will not be a carrier of the disease.
  • There is a 50% change the their child will inherit one normal and one abnormal gene. If this happens, the child will not have Tay-Sachs but will be a carrier when they grow up.

 
VOCABULARY WORDS
  •  Mutation - a sudden departure from the parent type in one or more heritable characteristics, caused by a change in a gene or a chromosome.
  • Chromosome - any of several threadlike bodies, consisting of chromatin, that carry the genes in a linear order: the human species has 23 pairs, designated 1 to 22 in order of decreasing size and X and Y for the female and male sex chromosomes respectively.
  • Hydration - To supply water to (a person, for example) in order to restore or maintain fluid balance.
  • Amniocentesis - a surgical procedure for obtaining a sample of amniotic fluid from the amniotic sac in the uterus of a pregnant woman by inserting a hollow needle through the abdominal wall, used in diagnosing certain genetic defects.
  • Gene - the basic physical unit of heredity; a linear sequence of nucleotides along a segment of DNA that provides the coded instructions for synthesis of RNA, which, when translated into protein, leads to the expression of hereditary character.
  • Enzyme - any of various proteins, as pepsin, originating from living cells and capable of producing certain chemical changes in organic substances by catalytic action, as in digestion.
  • Retina - the innermost coat of the posterior part of the eyeball that receives the image produced by the lens, is continuous with the optic nerve, and consists of several layers, one of which contains the rods and cones that are sensitive to light.
  • Neuron - a specialized, impulse-conducting cell that is the functional unit of the nervous system, consisting of the cell body and its processes, the axon and dendrites.


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