TLS Online TPP Program

#Question id: 4110


Tay-Sachs disease belongs to the family of lysosomal storage diseases; it is an autosomal recessive neurodegenerative disorder caused by deficiency of the lysosomal enzyme hexosaminidase. The inability to degrade sphingolipids results in the deposition of these lipids in the cells that causes severe mental retardation and death in childhood. The most common mutation in Tay-Sachs disease patients is a 4-base pair insertion in exon 11 of the 14 exons of the hexosaminidase gene. What could be the most likely consequence of this mutation?

#Unit 3. Fundamental Processes
  1. RNA polymerase II cannot bind to the hexosaminidase promoter.

  2. Termination of transcription of the gene is impaired.

  3. Hexosaminidase mRNA is unable to bind to ribosomes.

  4. The C-terminal region of the protein has an abnormal amino acid sequence.