Question: Tay Sachs disease: from clinical and molecular description to potential strategies for treatment.
Answer: Tay Sachs disease is a heritable, autosomal recessive, neurodegenerative disorder caused by a β-hexosaminidase α-subunit deficiency which prevents the formation of lysosomal heterodimeric α-β enzyme, hexosaminidase A (HexA), and consequently causes an excessive accumulation of the ganglioside GM2. Four forms of Tay Sachs disease are currently known (1). Classical infantile Tay Sachs disease (TSD) is the most common form of the disorder, and will be the focus of this essay....(short extract)
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- Subject: Medicine
- Course: Medicine
- Level: Degree
- Year: 2nd/3rd
- Mark: 66%
- Words: 2980
- Date submitted: March 13, 2009
- Date written: February, 2002
- References: Yes
- Document type: Essay*
- Essay ID: 993
