Nature: Beware! Genetic mutation increases risk of brain tumors in children

April 16, 2020 /prnewswire
2020 /
Bio-Valley
BIOON / -- Researchers at St Jude Children's Research Hospital, the European Molecular Biology Laboratory and the German Cancer Research Center have identified ELP1 as a new susceptibility gene in the child myelita SHH subgroup Nature recently published this article in an online version myeloma is the most common malignant brain tumor in pediatrics SHH subgroups account for about 30% of all myelinoma cases in children Previous studies have shown that this subgroup is influenced by the tendency of the patient's reproductive (genetic) DNA abnormalities genetic However, this previous work was limited to known cancer susceptibility genes image source: http://cn.bing.com
"Scientific evidence and the experiences of patients and their families show that genetic mutations may play a bigger role than previously thought," said co-author Dr Paul Northcott of St Jude's Department of Developmental Neurobiology "By looking for genes that go beyond the usual suspect range, we found that a large proportion of SHH neural tube cell tumors with mutations in genetic were not identified team looked at all protein-coding genes (exon groups) in more than 1,000 myelin patients The researchers compared their findings of neural tube cell tumors with more than 118,000 exosomes from several cancer-free individual databases The results showed that 14-15% of children with SHH myelin tumor had an abnormal mutation in the ELP1 gene in the reproductive DNA as ELP1 is added to the list of known cancer susceptibility genes, the researchers found that at least 40 percent of pediatric SHH neural tube cell tumors are caused by genetic abnormalities In SHH-entomated neural tube cell tumors, ELP1 mutations are more than twice as likely to occur as other known cancer susceptibility genes better understand susceptibility
ELP1 is usually part of a doyaki complex called elongator elongator plays a role in regulating translation, which is the process of translating genetic information into proteins The findings support research into how translation disorders lead to neural tube cell tumors "When multiple members of a family have the same type of neural tube cell tumor, but there are no identifiable susceptibility gene mutations, there must be more stories," said Gile Robinon, M.D., a oncology at St Jude, one of the first authors "ELP1 is not part of the routine genetic testing available to patients and families, but this work suggests that it should be included in myeloma testing researchers also found that ELP1 may help guide the prognosis Patients with this mutation tend to perform well in the treatments currently available Researchers are continuing to study ELP1 in the lab to determine whether the mutation could be used in the future for custom myelin tumor treatments (BioValleyBioon.com) References: 1, Inherited mutation can predipoe children to a type of brain tumor
Germline Elongator mutation in Sonic Hedgehog medullotoma , Nature (2020) DOI: 10.1038/41586-020-2164-5, http://nature.com/article/41586-020-2164-5