An asymptomatic mutation complicating severe chemotherapy-induced peripheral neuropathy (CIPN): a case for personalised medicine and a zebrafish model of CIPN
2016
Studying a young cancer patient’s DNA in a zebrafish model helped reveal why she experienced a severe complication of chemotherapy. The 12-year-old girl developed back pain, muscle weakness and other symptoms of nerve damage after receiving two doses of a chemotherapy drug called vincristine to treat her acute lymphoblastic leukemia. To determine the cause of the problem, a team led by Michael Holloway from the Warren Alpert Medical School at Brown University, USA, sequenced 15 genes linked to Charcot-Marie-Tooth disease, the most common hereditary explanation for this kind of nerve damage. They found a novel mutation in a gene called GARS. The researchers knocked down this gene’s function in zebrafish, and saw no obvious signs of disease until they added vincristine and observed disruption of neuromuscular junctions.
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