Disease name: Werner syndrome, sometimes called “adult progeria”
Affected populations: Werner syndrome is estimated to affect 1 in 100,000 live births worldwide, though its prevalence varies among countries. In Japan, the syndrome affects an estimated 1 in 40,000 to 1 in 20,000 people, whereas the prevalence in the United States is around 1 in 200,000. This difference between locations is partly attributed to “founder effects” — instances where genetic variation declines after a small group of individuals gets separated from a larger population. This limits the gene pool and can cause disease-causing mutations to become more widespread within a population.
Werner syndrome affects males and females at equal rates.
Causes: Werner syndrome is caused by mutations in the WRN gene, which is needed to make the so-called Werner protein. This crucial enzyme unwinds and separates the two strands of a DNA molecule and also removes bits of damaged DNA. This helps cells to repair their DNA following damage, make copies of their DNA as they multiply and use the genetic instructions to make proteins.
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