Tay Sachs

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Ramya Krothapally Carol George Jennifer Narvais Sanjiv Gopalkrishnan

Autosomal recessive genetic disorder Starts showing symptoms at six months and usually results in death at the age four Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain. Caused by insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops High prevalence among the Ashkenazi Jews There are 3 types: infantile, juvenile, or adult onset. Results in nervous system breakdown and death in the first few years of life.

What is it?

Autosomal recessive 25% chance of having an affected child for two parents who are both carriers A child who inherits two Tay-Sachs genes (one from each parent) produces no functional HexA enzyme and is certain to develop Tay-Sachs disease.

Genotype

mutations in the HEXA gene on human chromosome 15 Cause by several different kinds of mutation such as single base insertions and deletions, splice phase mutations, missense mutations, and other The mutations causes a change in the product, an enzyme, the gene encodes for and inhibits the functionality.

Causes of Disease

Symptoms vary from one child to the next, there is always a slowing down of development. Gradually, Tay-Sachs children lose motor skills and mental functions. Over time, the child becomes blind, deaf, mentally retarded, paralyzed and non responsive to the environment. Tay-Sachs children usually die by age four.

Phenotypic Effects

Infants from 3-6 months 1. Slowing down of development 2. Weakening of muscles 3. Loss of motor skills such as turning over, sitting, and crawling.

After disease progresses 1. Seizures 2. Increased startle reflex to noise 3. Vision loss 4. Hearing loss 5. Inability to swallow 6. Mental retardation 7. Paralysis 8. Dementia.

A severe case of Tay Sachs results in an eye abnormality called the cherry-red spot

Cherry red spot

Classic infantile Tay-Sachs disease is a fatal disease and children with this disease usually die by age 5. Juvenile Tay-Sachs is also fatal, with death occurring in adolescence or early adulthood. The long-term outlook for the adult form is not known.

Carrier Forms and/or Lethal Forms of Disease

There is no known cure or treatment for Tay Sachs There are only methods to help manage the symptoms that range from life extending interventions like a feeding tube to comfort measures like massage to promote relaxation.

Treatment

Genetic counseling

At-risk couples can choose from two procedures: amniocentesis, done around the 16th week of pregnancy, and chorionic villus sampling (CVS), performed between the 10th and 13th weeks

Preimplantation genetic diagnosis: choosing healthy embryos to be placed in the mothers womb

Prevention

"NINDS Tay-Sachs Disease Information Page." National Institute of Neurological Disorders and Stroke. N.p., 6 Oct 2011. Web. 2 Feb 2013. <http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm>. "Tay Sachs Disease." PubMed Health . A.D.A.M., 17 Nov 2010. Web. 2 Feb 2013. <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/>. "Tay Sachs Disease." Genetics Home Reference: Your Guide to Understanding Genetic Conditions. N.p., n.d. Web. 3 Feb 2013. <http://ghr.nlm.nih.gov/condition/tay-sachs-disease>. "Tay Sachs ." RD. Health Grades Inc. , 06 Nov 2012. Web. 4 Feb 2013. http://www.rightdiagnosis.com/t/tay_sachs/intro.htm
Pictures http://www.wikidoc.org/index.php/Tay-Sachs_disease http://commonhealth.wbur.org/2011/11/tay-sachs-human-trial http://perieidikisagwgis.blogspot.com/2010/07/tay-sachs-taysachs-disease_06.html http://www.funscrape.com/Search/1/tay+sachs.html

Bibliography