IMAGE: The study authors are Tamara Lamprecht, Jason Schwartz, M.D., Jing Ma, Ph.D., and Jeffrey Klco, M.D., Ph.D.. view more
Credit: St. Jude Children’s Research Hospital / Justin Veneman
Researchers have helped solve a decades-old mystery about which mutations are responsible for an inherited bone marrow disorder. The answer may allow some children to avoid the risk and expense of bone marrow transplantation, a common treatment for leukemia and bone marrow disorders.
Investigators at St. Jude Children’s Research Hospital and UCSF, led the study, which appears today in the scientific journal JCI Insight.
Researchers analyzed blood samples from 16 siblings in five families affected by a rare bone marrow disorder and found they all carried germline mutations in the genes SAMD9 or SAMD9L. The disorder is myelodysplasia and leukemia syndrome with monosomy 7, which is also called familial monosomy 7 syndrome. In three of the five families, an apparently healthy parent also carried the mutation. Germline mutations are found in the DNA of every cell and are usually inherited.
“Surprisingly, the health consequences of these mutations varied tremendously for reasons that must still be determined, but the findings are already affecting how we may choose to manage these patients,” said Jeffery Klco, M.D., Ph.D., assistant
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