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A Rare Congenital Syndrome And The Genetic Cause Behind It Has Been Brought To Light
A previous study on mice had already shown impaired neutrophil activity and increased susceptibility to bacterial infection in the animals lacking the protein glucose-6-phosphatase, catalytic subunit 3 (G6PC3).
The G6PC3 gene happened to be among the 36 genes the team was examining, and DNA analysis indeed showed that all five study patients had the same mutations in this gene.
Upon sequencing the DNA of 104 additional patients from the SCN International Registry with unknown mutations, the researchers found G6PC3 mutations in seven.
Although the seven children had different types of G6PC3 mutations than the original five study subjects, they shared a constellation of clinical symptoms.
The researchers also revealed that 11 of the 12 patients had heart defects or urogenital malformations, and 10 had unusually prominent subcutaneous veins.
They said that grouping of clinical characteristics had not previously been described with SCN, and defined a new syndrome associated with G6PC3 mutation.
The study also showed that insufficient supply of glucose causes neutrophils to undergo stress, and if the body's stress response was not adequate, the neutrophils would die.
The researchers said that the connection between insufficient glucose and cellular stress response might be relevant to other more common diseases, especially those related to glucose disorders and glycogen-storage disorders.
"The study's findings are important for the care of patients with SCN, and for building an understanding of the diverse genetic causes of this disease," said Dr. David Dale, University of Washington, who wrote an accompanying editorial on the study in The New England Journal of Medicine.
"We do not know yet if patients with mutations in the G6PC pathway are at risk of developing leukemia and if they will need as frequent blood tests as other SCN patients. Knowledge of G6PC3 mutations will also alert physicians to look for cardiac defects in children with severe neutropenia as a clue to making this specific diagnosis," the researcher added.
Source-ANI
PRI/L
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