Published in Blood Weekly, April 27th, 2006
"Infantile malignant osteopetrosis (IMO) is a rare autosomal recessive disorder affecting osteoclast function. Fifty percent of the patients have a mutation in the TCIRG1 gene coding for one subunit of an osteoclast proton pump. The only curative treatment is hematopoietic stem cell transplantation (SCT)," scientists in Sweden report.
According to M. Johansson and colleagues at Lund University, "The oc/oc mouse has a mutation in the gene homologous to TCIRG1 and its expected lifespan is only 3 to 4 weeks.
"Previous attempts to cure these mice with SCT have been...
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Source: Blood Weekly (2006-04-27)
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