Asked by Usopp Stark on May 08, 2024
Verified
Alleles associated with Tay-Sachs disease have mutations that cause a(n) ____.
A) altered form of lamin
B) alteration of a protein needed for brain cell development
C) form of dwarfism
D) absence of pigmentation
E) malfunction of a lysosomal enzyme
Tay-Sachs Disease
A genetic disorder that destroys nerve cells in the brain and spinal cord, leading to severe neurological impairment.
Lysosomal Enzyme
Enzymes within lysosomes that break down biomolecules, playing a crucial role in cellular digestion and waste removal.
Brain Cell
A general term for any of the cells found within the brain including neurons that process and transmit information, and glial cells that provide support and protection for neurons.
- Identify the genetic mutations associated with specific diseases.
Verified Answer
RF
Ranasha FrancisMay 11, 2024
Final Answer :
E
Explanation :
Tay-Sachs disease is a lysosomal storage disorder caused by mutations in the HEXA gene, which result in a deficiency of the lysosomal enzyme hexosaminidase A. This leads to the accumulation of GM2 ganglioside in cells, particularly in the brain, resulting in neurodegeneration and premature death.
Learning Objectives
- Identify the genetic mutations associated with specific diseases.