Write some points on Tay sachs disease?
Answers
This genetic disorder is due to deficiency of enzyme B-N acetyl hexosaminidase, this enzyme is involved in fat metabolism.
Related Information:-
- 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.
- 6lIn 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.
Answer: Tay-Sachs disease is a rare disorder passed from parents to child. It's caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the child's brain and affect the function of the nerve cells. Tay-Sachs disease is inherited in an autosomal recessive manner. The disorder results from changes (mutations) of a gene known as the HEXA gene, which regulates production of the hexosaminidase A enzyme. The HEXA gene has been mapped to the long arm (q) of chromosome 15 (15q23-q24). Tay-Sachs by Shawn Bergeron. Tay-Sachs is an autosomal recessive genetic disorder resulting from mutation of the HEXA gene encoding the alpha-subunit of the lysosomal enzyme, alpha-N-acetylhexosaminidase. ... A G to C point mutation at amino acid 180 changes the codon UAC to UAG causing termination of the polypeptide.
treatment for tay sachs There is no cure for Tay-Sachs. Treatment typically consists of keeping the child comfortable. This is called “palliative care.” Palliative care may include medication for pain, anti-epileptics to control seizures, physical therapy, feeding tubes, and respiratory care to reduce mucus buildup in the lungs.
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