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Tay Sachs Disease

BIO 1000 Summer - Information on Tay Sachs Disease and the science behind it.

Kaitie Loy

on 29 May 2013

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Transcript of Tay Sachs Disease

DNA, Genes, &
Tay Sachs Disease By Kaitie Loy
BIO 1000 Tay Sachs is a genetic disease that is caused by malfunctioning lysosomes that cause cellular waste to not be digested properly. This waste builds up in the brain, and causes problems in sight, hearing, movement, and mental development. It commonly affects young infants and children. What is "Tay Sachs Disease?" Enzymes in the human body help to clear out fatty protein and other unwanted material that can interfere with growth..

Children with Tay-Sachs disease are born without one of those important enzymes, Hexosaminidase A (Hex A).

Normally this enzyme is held within the lysosomes of a cell. The Biology Behind Tay Sachs A genetic counseling session can help individuals learn their personal risk or the risk for other family members of genetic disorders. It can also help them learn what testing, surveillance, prevention strategies, or research trials may be right for their situation. In most cases, a genetic counselor will lead the session, but some nurses, doctors, and medical geneticists are also trained to do genetic counseling. When Hex X isn't present in the lysosome, the fatty proteins build up, causes the lysosome to swell and burst. Then, it can potential digest the whole cell or choke the cell to death. If this happens in enough cells, it can cause the human to die. Hexosaminidase A is an enzyme. An enzyme is a structure that helps to initiate and accelerate chemical reactions in our bodies. The "nooks and crannies" in enzymes create active space for chemical reactions to occur. All of the chemical reaction in a body are collectively known as its metabolism. This is a basic animal cell. Within the cell are several bodies known as organelles. The nucleus contains the genetic material necessary for reproduction and the direction of all cellular activity. DNA, or deoxyribonucleic acid, is present in elongated strands of chromatin.
The endoplasmic reticulum help manufacture and move proteins around the cell's cytoplasmic interior
Ribosomes are attached to the rough ER and synthesize proteins. Ribosomes are composed of RNA, or ribonucleic acid and are built by the cell's DNA from a template. Definition:
"The process involving a set of chemical reactions that modifies a molecule into another for storage, or for immediate use in another reaction or as a by product." Metabolism A body's metabolism is essential. It is responsible for cell growth, reproduction, response to environment, survival mechanisms, sustenance, and maintenance of cell structure and integrity. It is made up of two categories: catabolism (the destructive phase) and anabolism (the constructive phase.) The Genetics Behind Tay Sachs The absence of the Hex A is caused when an individual inherits genes with a mutation. Tay-Sachs occurs if a child inherits two recessive alleles for the Tay-Sachs gene.
A child can only have Tay-Sachs disease if both parents are carriers of the gene. Gene: The basic unit of heredity; a sequence of DNA nucleotides on a chromosome that carries the information necessary for making a functional product, usually a protein or an RNA molecule.

DNA: A nucleic acid, DNA carries information about the production of particular proteins in the sequences of its nucleotide bases.

Allele: An alternative form of a gene (one member of a pair) that is located at a specific position on a specific chromosome. These DNA codings determine distinct traits that can be passed on from parents to offspring. Mitochondria serve as the power centers of animal cells. They have a smooth outer membrane with a highly convoluted inner membrane.
Microtubules and microfilaments form the cell's cytoskeleton and allow movement and locomotion.
The Golgi apparatus is made of vesicles that package and transport macro-molecules of enzymes and hormones.
Vacuoles digest food and excrete cellular waste. When two carriers have a child together, there's a:
• 50% chance that their child will be a carrier, but not have the disease
• 25% chance that their child will not be a carrier and not have the disease
• 25% chance that their child will have the disease
It is never possible to know with absolute certainty if two carriers will have a child with Tay Sachs. Genetic Counseling Since two seemingly healthy parents who display no symptoms may produce a child with the disease, it can be beneficial for the parents to be screened to determine whether they carry a disease-causing copy of the gene. Screening, genetic counseling and testing of embryos following fertilization, can be helpful in reducing the occurrences of Tay Sachs. Since screening began in 1969, the incidence of Tay-Sachs disease has fallen by more than 75%. Resources What is Life? A Guide to Biology, Second Edition, by Jay Phelan

About.com - "Allele - A Genetics Definition"

Biology Junction - "Cell Functions"

Kids Health - "Tay-Sachs Disease"

How Stuff Works - "How Cells Work"

National Institute of Neurological Disorders and Stroke
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