Dent disease 1 (DD1) is an inherited kidney disorder characterized by proximal tubule dysfunction. In affected individuals, the cells of the proximal convoluted tubule (PCT) fail to reabsorb low-molecular-weight proteins that have been filtered through the glomerulus. This leads to β2\beta_2β2-microglobulinuria (abnormally high quantities of β2\beta_2β2-microglobulin, a small plasma protein, in the urine).
Suggest how DD1 causes β2\beta_2β2-microglobulinuria.
DD1 results from a sex-linked recessive mutation in the CLCN5 gene. In a male with DD1, where would this mutation be located? Select (✓) one box.
[ ] The homologous section of a Y chromosome
[ ] The homologous section of an X chromosome
[ ] The non-homologous section of a Y chromosome
[ ] The non-homologous section of an X chromosome
Scientists investigated the use of transplanted stem cells to treat DD1 in mice. They set up four experimental groups:
After 16 weeks, the scientists measured the concentration of β2\beta_2β2-microglobulin in the urine using a scale from 0 (undetectable) to ++++ (highest concentration). The results are shown in Table 1.
| Group | Maximum concentration of β2\beta_2β2-microglobulin in urine at 16 weeks | Percentage of mice with this concentration (%) |
|---|---|---|
| W | 0 | 100 |
| X | ++++ | 95 |
| Y | ++++ | 100 |
| Z | ++ | 68 |
Using all the information provided, evaluate the use of stem cells to treat DD1 in humans.
The scientists carried out further work to investigate how the transplanted stem cells developed after transplantation.
Suggest how the transplanted stem cells reduced β2\beta_2β2-microglobulinuria.