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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 can cause proteinuria due to damage to the kidney glomeruli. In AS, mutations affect the collagen structure within the glomerular basement membrane, leading to increased permeability. This allows proteins, which are normally retained in the bloodstream, to pass through into the urine.

Step 2

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

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Answer

✓ The non-homologous section of an X chromosome.

Step 3

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

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Answer

The use of stem cells for treating Alport syndrome presents several potential benefits. Firstly, they can specialize and differentiate into cells that could repair or replace damaged renal structures, including those in the glomeruli. Secondly, there is evidence from animal studies indicating significant reduction in proteinuria, suggesting that stem cells can restore normal kidney function. However, challenges remain, such as the possibility that the stem cells may not fully integrate into human systems or that results observed in mice might not translate to human patients. Additionally, the long-term effects and potential rejection of transplanted stem cells need careful investigation.

Step 4

Suggest how the transplanted stem cells reduce proteinuria.

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Answer

The transplanted stem cells likely reduce proteinuria by integrating into the recipient's kidney tissue as functional cells. It has been observed that these cells can differentiate and specialize in glomerular function, leading to improved filtration capabilities. Additionally, if the stem cells are derived from healthy sources, they may restore the structural integrity of the glomeruli, reducing the leakage of proteins into the urine.

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