Tay-Sachs Cousins
This telltale eye finding appears in Tay-Sachs and several related diseases.
What is a cherry-red spot on the retina?
True or false: As Tay-Sachs progresses, individuals commonly need this kind of help with movement.
What is True?
When a small founding group passes its gene variants to a growing population, this effect can make certain groups, such as Ashkenazi Jews, more at risk.
What is the founder effect?
Neil Shubin's team found the fossil Tiktaalik, a link between fish and land animals, on this Arctic island in northern Canada.
What is Ellesmere Island?
Sandhoff disease is caused by a defect in this gene, while Tay-Sachs involves HEXA.
What is HEXB?
Carrier screening through this type of testing is the main way families can prevent Tay-Sachs, since there is no cure.
What is genetic testing?
If both parents are carriers, each child has this percent chance of having Tay-Sachs.
What is 25%?
Shubin explains that this family of "master control" genes helps lay out the body plan, including where limbs form, in animals from fish to humans.
What are Hox genes?
Name one of these four other diseases that share the cherry-red spot and progressive nerve cell deterioration.
What are GM1 gangliosidosis, infantile Gaucher disease, Niemann-Pick type A, and galactosialidosis?
Infants diagnosed with the classic form of Tay-Sachs typically live only until about this age range.
What is 4 to 5 years?
This eye finding, a cherry-red spot on the retina, is seen in these age groups.
What are infancy and childhood?
Structures like the human arm, bat wing, and whale flipper share a similar bone layout and are called this type of structure.
What are homologous structures?
Tay-Sachs and Sandhoff disease both involve buildup of this fatty compound, which the body can't break down properly.
What are gangliosides (specifically GM2 ganglioside)?
Substrate reduction therapy aims to balance the synthesis of GM2 ganglioside with its ___.The goal of substrate reduction therapy is to do this to the production of the fatty substance that builds up in nerve cells.
What is breakdown (or degradation)?
Mutations in this gene, which codes for the alpha subunit of the enzyme hexosaminidase A, cause Tay-Sachs disease.
What is HEXA?
A random change in DNA sequence is called this, and it is the ultimate source of new genetic variation.
What is a mutation?
This "cousin" of Tay-Sachs is caused by a missing activator protein rather than a defective Hex A or Hex B enzyme.
What is GM2 activator deficiency?
Name one: Enzyme replacement therapy, enzyme enhancement therapy, substrate reduction therapy, gene therapy, or this transplant of blood-forming cells has been explored as a possible treatment.
What is bone marrow transplantation?
Compared with a healthy brain, a brain affected by Tay-Sachs is described as having this density on imaging.
What is low density?
What is special about Texas A&M and the University of Kentucky?
Dr. Hale attended college here.