Two new mutations identified as possible causes of rare blood disorder
Researchers have uncovered two novel gene mutations that may be responsible for a rare blood disorder. The mutations are found on the GNE gene and impact an enzyme, also called GNE, that is involved in the synthesis of sialic acid and a process called sialylation, which is critical for brain development. The mutations were first identified in a pediatric patient with macrothrombocytopenia, also called a giant platelet disorder because of the enlarged size of blood platelets.
The findings were reported in a paper published in Blood Advances on February 27, 2024.
News Release for this research: https://www.eurekalert.org/news-releases/1039061
【Paper Information】
Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice
Lulu Huang*, Yuji Kondo*, Lijuan Cao, Jingjing Han, Tianyi Li, Bin Zuo, Fei Yang, Yun Li, Zhenni Ma, Xia Bai, Miao Jiang, Changgeng Ruan, and Lijun Xia
Blood Advances 2024; 8 (4): 991–1001 https://doi.org/10.1182/bloodadvances.2023011490
*：co-first authors
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