Biological tools revamp disease classification

[摘要] As different genes can contribute to similar diseases, same genes and families of genes can play a part in a range of different diseases. Scientists are using structural biology, genomics and biochemistry to reinvigorate a debate about the relationship between genes and disease. Studies are revealing the complicated relationship between genes and disease even in those disorders linked to glitches in a single gene. It is found that the XPD mutations causing one disease, xeroderma pigmentosum, damage the part of the XPD enzyme that binds DNA. As the mutated enzyme can't repair the DNA damage caused by sunlight, it explains why patients with this condition have such high rates of skin cancer. But they found that mutations causing trichothiodystrophy-marked by premature ageing block the protein from joining in a larger complex that transcribes DNA. In a zebrafish model, genes linked to the two conditions interact with each other during development. It is suggested that a phenome project is needed to investigate connections between phenotypes.