What kind of mutation is Tay-Sachs?
Tay-Sachs disease is an autosomal recessive disorder affecting the central nervous system. The disorder results from mutations in the gene encoding the alpha-subunit of beta-hexosaminidase A, a lysosomal enzyme composed of alpha and beta polypeptides.
Is Tay-Sachs a deletion mutation?
Tay-Sachs disease (TSD) is an inherited neurodegenerative ganglioside storage disorder caused by deficiency of the hexosaminidase A enzyme. A deletion allele (FCD) at the HEXA locus has attained high frequency in the French Canadian population.
Where is the mutation in Tay-Sachs?
Tay–Sachs disease is caused by a genetic mutation in the HEXA gene on chromosome 15, which codes for a subunit of the hexosaminidase enzyme known as hexosaminidase A. It is inherited from a person’s parents in an autosomal recessive manner.
Is Tay-Sachs a chromosomal mutation?
Tay-Sachs disease is a genetic disorder that is passed from parents to their children. It occurs when a child inherits a flaw (mutation) in the HEXA gene from both parents. The genetic change that causes Tay-Sachs disease results in a deficiency of the enzyme beta-hexosaminidase A.
Is Tay-Sachs caused by a frameshift mutation?
A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the alpha-subunit of beta-hexosaminidase. J Biol Chem.
What is a deletion mutation?
A deletion, as related to genomics, is a type of mutation that involves the loss of one or more nucleotides from a segment of DNA. A deletion can involve the loss of any number of nucleotides, from a single nucleotide to an entire piece of a chromosome.
What gene or chromosome is affected by Tay-Sachs disease?
Without this protein, gangliosides, particularly ganglioside GM2, build up in cells, often nerve cells in the brain. Tay-Sachs disease is caused by a defective gene on chromosome 15.
Which is a frameshift mutation?
A frameshift mutation in a gene refers to the insertion or deletion of nucleotide bases in numbers that are not multiples of three. This is important because a cell reads a gene’s code in groups of three bases when making a protein.
What diseases are caused by frameshift mutations?
Diseases caused by frameshift mutations in genes include Crohn’s disease, cystic fibrosis, and some forms of cancer.