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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 2

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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 2

Step 1

Suggest how AS could cause proteinuria.

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Answer

AS affects or damages the basement membrane of the kidney's glomeruli. This damage leads to an increased permeability, allowing proteins to pass through the filtration barrier. Consequently, proteins that should not normally be present in urine leak into the urine, resulting in proteinuria.

Step 2

In a male with AS, where would the sex-linked mutation be located? Tick (✓) one box.

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Answer

The non-homologous section of an X chromosome.

Step 3

Using all the information, evaluate the use of stem cells to treat AS in humans.

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Answer

The use of stem cells shows promise as indicated by the percentage of mice in the wild type group showing no protein in urine (97.5%) compared to the AS group (100% with protein). However, groups C and D that received stem cells still demonstrated proteinuria, suggesting that the treatment is not fully effective in all cases. Additionally, ethical considerations and the long-term effects of stem cell therapy on humans remain to be addressed. The procedure requires further investigation and understanding before it can be widely applied.

Step 4

Suggest how the transplanted stem cells reduce proteinuria.

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Answer

Transplanted stem cells can differentiate into healthy glomerular cells, replacing the damaged cells in AS mice. They may also restore the integrity of the basement membrane, allowing for proper filtration and reducing the amount of protein that passes into the urine.

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