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Alport syndrome (AS) is an inherited disorder that affects kidney glomeruli of both men and women - AQA - A-Level Biology - Question 8 - 2020 - Paper 1

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Alport syndrome (AS) is an inherited disorder that affects kidney glomeruli of both men and women. Affected individuals have proteinuria (high quantities of protein ... show full transcript

Worked Solution & Example Answer:Alport syndrome (AS) is an inherited disorder that affects kidney glomeruli of both men and women - AQA - A-Level Biology - Question 8 - 2020 - Paper 1

Step 1

Suggest how AS could cause proteinuria.

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Answer

Alport syndrome is characterized by the abnormality of the kidney's glomeruli. In AS, the defect in the collagen structure can lead to increased permeability of the glomerular capillaries. Consequently, it allows proteins that are usually retained in the bloodstream to pass into the urine, resulting in proteinuria.

Step 2

In a male with AS, where would the sex-linked mutation be located?

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Answer

The sex-linked mutation in a male with Alport syndrome would be located in the non-homologous section of an X chromosome, as males have one X chromosome and one Y chromosome.

Step 3

Evaluate the use of stem cells to treat AS in humans.

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Answer

The use of stem cells to treat Alport syndrome offers a promising approach for restoring kidney function. Stem cells can differentiate into specialized cells, which could replace damaged cells in the kidney glomeruli. Studies in mice have shown that stem cell transplantation resulted in a significant decrease in proteinuria, indicating a reduction in damage to the glomeruli.

However, challenges remain, such as ensuring the compatibility of stem cells to avoid rejection and the long-term effects of such treatments. Furthermore, the precise mechanism of how stem cells improve kidney function needs further investigation to assess full efficacy in humans.

Step 4

Suggest how the transplanted stem cells reduce proteinuria.

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Answer

The transplanted stem cells may reduce proteinuria by differentiating into functional glomerular cells, helping to repair the damaged kidney structure. By replacing the defective cells in the kidneys, these stem cells can restore the proper filtration barrier, leading to reduced protein leakage into the urine.

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