I also need to reference this. Tay-Sachs disease is a rare genetic disorder that

Question

I also need to reference this.

Tay-Sachs disease is a rare genetic disorder that destroys nerve cells in the brain and spinal cord. There is currently no cure for the disease. Answer the following questions in relation to the disease. What are lysosomes? gene mutation in the cell? their cellular concentration increases? ramifications of the disease? Mention at least two for full marks. (2 marks) (2 marks) (2 marks) (2 marks) a) b) Tay-Sachs disease results from mutations in the HEXA gene. What are the effects of the c) What are gangliosides, where in the body are they most abundant and what happens when d) Symptoms usually begin in children before six months of age. What are the clinical

Explanation / Answer

a) Lysosomes---These are small vesicle shaped cell organelles found in approximately all animal cells. Lysosomes contain hydrolytic enzymes which breakdowns many types of biomolecules.Lysosomes are membrane bound. Functions-Degradation of polymers, secretion, plasma membrane repair, cell signalling, energy metabolism etc etc.

b)Effects of gene mutation in the cells:-

Most of the gene mutations have very less or no effect on the functioning of cells. While some cell mutations adversely effects it's functioning.

Examples:- Harmful mutations may cause genetic disorders or cancers.

Genetic disorders include for eg. A disease known as cystic fibrosis is caused by mutation in one or a few genes. Which causes body to produce thick sticky mucus that clogs various body organs such as lungs.

Cancer is mostly caused by mutations in genes that regulates cell cycle.cells with such mutation divides exponentially without any further limits.

c) Gangliosides---It is a molecule made up of Glycophingolipid(ceramide+oligosaccharide) alongwith one or more sialic acids(eg. NANA) linked on the sugar chain. There are total 60 types of Gangliosides known today.

The oligosaccharide group of a Gangliosides are bound to cell membranes which acts as cell surface markers and therefore serve as specific determinants in cellular recognition and cell to cell communication. Also acts as receptors for various pitutary hormones.

As specific determinants it acts in growth and diffrentiation in tissues as well as in carcinogenesis.They are found on cell surfaces embedded in them.

Degradation of Gangliosides is done by lysosomal enzymes.Mutations in genes producing these lysosomal enzymes leads to accumulation of partially broken down Gangliosides in lysosomes Alias gangliosidosis. For eg. In tay-sachs disease which arises from a genetic defect in HEXA gene or Hexoseaminidase A gene causes GM2 to accumulate in lysosomes.there by leading to enormous swelling of ganglion cells in Nervous system; disturbing the normal functioning of neurons.

d) Symptoms of Tay-Sachs Disease:-

1)Deafness

2)progressive blindness

3)Decreased Muscle strength

4)increased startle muscle

5)paralysis

6)seizure

7)muscle stifness

8)Delayed mental or social development

9)Slow growth

10)Red spot on Macula

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