Download Is water a polar or nonpolar molecule

Disease: Sandhoff disease
Samantha Capel, Drew Gumbiner, Jeff Allen
1. Draw the chemical structure of the molecule that
accumulates in this disease. Is it known where in the
body or the cell the molecule accumulates?
Accumulates in visceral tissues.
2. What is the enzyme that is defective in this disease?
Hexosaminidase A and B
3. Are there specific DNA or amino acid mutations
known that cause this disease?
Arg 284 is mutated to a termination codon
4. What are the products normally produced by the
enzyme defective in this disease?
Α-galactoside and GalNAc
5. What are clinical symptoms exhibited by individuals with the disease?
Digressive development in infants (6 mo.), muscle/motor weakness, sharp reaction to loud
noises, blindness, deafness, cherry red spots in retina
6. At what age (or ages) does the disease begin to cause symptoms?
6 months
7. What is the life expectance of individuals with this disease?
3 years
8. Are there treatments for this disease? If so, what are they?
Not really, nutrition, hydration, and maintenance of clear airways. Substrate depletion therapy,
substrate deprevation.
9. Are there genetic tests available for diagnosis of this disease? If so, describe them.
Yes, parents can undergo genetic sequencing to see if they carry the recessive gene. Embryos can
undergo pre-embyonic genetic diagnosis, which sequences its genome.
Disease: Tay-Sachs disease
Graham Niswander, Rob Larson, Brendan, Christian
Disease: Gaucher disease
John Rooney, Trevor Rickerd, Zach Smith
Disease: Gangliosidosis GM1
Abbi Tubia, Mackenzie Walker, Shawn Sternisha, Alex Swiontek
1. Draw the chemical structure of the molecule that
accumulates in this disease. Is it known where in
the body or the cell the molecule accumulates?
Lysosomal storage disease – accumulation of
ganglioside substrates in lysosomes
2. What is the enzyme that is defective in this
disease? β-galactosidase (A,B,C)
3. Are there specific DNA or amino acid mutations
known that cause this disease?
Genetic mutation (autosomal recessive) of GLB1
gene on chromosome 3p22.3
4. What are the products normally produced by the enzyme defective in this disease?
3 isozymes of β-galactosidase defective in tissues (A,B,C) Ganglioside GM2 + removed
galactose
5. What are clinical symptoms exhibited by individuals with the disease?
Neurodegeneration, seizures, liver & spleen enlargement, coarsening of facial features
6. At what age (or ages) does the disease begin to cause symptoms?
Infantile form can lead to death in first 2 years – begins at 6 months.
Late infantile/juvenile form onset between 7 mo – 3 yrs Type II shows onset from 3-30 years
7. What is the life expectance of individuals with this disease?
See number 6
8. Are there treatments for this disease? If so, what are they?
No specific treatment, but anticonvulsants can be used to control seizures. In addition, hydration
and nutrition is important.
9. Are there genetic tests available for diagnosis of this disease? If so, describe them.
BpG’s GM1 gangliosidosis test relies on initial NGs testing followed by Sanger sequencing for
variations considered pathogenic. 1D of defective gene forms basis for familial screening &
genetic counseling.
Disease: Fabry disease 1
Subomi Aregbesola, Chris Steilen, Jamie Sullivan
Disease: Fabry disease 2
Stacie Cler, Rose Stoller, Chris Olson, Arielle Lopez
Disease: Niemann-Pick disease
Gloria Alvarado, Joshua Hill, Sean Kennedy