Question

Tay-sachs disease is caused by a mutation that affects the function of

Answer 1

mutations in hexa gene on chromosome no 15 The mutation results in problems in enzyme beta-hexosaminidase A this process occurs in autosomal recessive manner

Answer 2

Information related to Tay sachs disease:-

• This genetic disorder is due to deficiency of enzyme B-N acetyl hexosaminidase, this enzyme is involved in fat metabolism.
• That fat or conjugated lipid accumulate in brain(ganglioside cell) and spinal cord and damage these cells.
• This may cause mental retardation & paralysis of a normal born child.
• In this disorder child does not survive more than 3-4 years. Till now there is no any treatment of Tay-sach's disease is found.