Tay-Sachs disease is a genetic abnormality involving the metabolism of gangliosi

Question

Tay-Sachs disease is a genetic abnormality involving the metabolism of gangliosides which are important components of neuron cell membranes. Tay-Sachs, and several other debilitating diseases occur in much greater proportion in the Ashkenazi Jews (communities found Northern and Central Europe) compared to the rest of the world’s population. After the first Jewish-Roman war in Judea which resulted in the destruction the temple in 70 CE (current era), a small band of Jews migrated to Europe. It is now believed that just four women who lived 2,000-3,000 years ago are the ancestors of today’s Ashkenazi Jews.

Research the “Founder Effect” and how this may have lead to the high incidence of Tay-Sachs disease in the Ashkenazi Jews. Briefly describe how the genetic abnormality leads to malfunction of neurons. (please do not copy word from word from a source! thank you!!)

Explanation / Answer

ANSWER:

Founder Effect :

The founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population.

Tay–Sachs disease was one of the first genetic disorders for which epidemiology was studied using molecular data.

This hypothesis states that the high incidence of the 1278insTATC chromosomes is the result of an elevated allele frequency that existed by chance in an early founder population.

Tay sach disease :

A recessive genetic disorder, affecting mainly Ashkenazi Jews,in which the absence of an enzyme necessary for the breakdown of ganglioside in the nervoussystem leads to damaging accumulation of this material. The condition appears soon after birthand features blindness, deafness, progressive dementia, seizures, paralysis and death, usually before the age of 3.

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