Ajhg: new research reveals the effect of PTEN mutation on cancer and autism

September 26, 2019 / BIOON / -- recently, in a new study published in American Journal of human genetics, a team of researchers led by Dr Charis eng, director of the Institute of genomics, Cleveland Clinic, identified a metabolite that can be used to predict whether individuals with PTEN mutations will develop cancer or autism spectrum disorder (ASD) Mutations in the tumor suppressor gene PTEN are associated with a range of rare genetic diseases, increasing the risk of certain cancers, cognitive and behavioral deficiencies These diseases are collectively referred to as PTEN heterogeneous tumor syndrome (PHTS), but the clinical manifestations of patients vary greatly and are usually unpredictable Previous studies have identified metabolic disorders as a sign of cancer For example, mutations in the SDHx gene can lead to the accumulation of succinic acid metabolites, which is related to the occurrence of tumors Similarly, previous studies have also found succinate accumulation in patients with PTEN mutations, indicating that changes in metabolic levels are related to the risk of diseases such as cancer (image source: www Pixabay Com) for further study, Dr eng's team analyzed the metabolic level of 511 patients with Cowden syndrome, Bannayan Riley Ruvalcaba syndrome or Cowden like syndrome (all subtypes of PHTS) and the control group The results showed that some metabolites were related to specific mutations and / or clinical features In particular, they found that a lower level of fumarate, a metabolite formed from succinate, was more correlated with ASD or other developmental disorders than in individuals with PTEN mutations These findings suggest that some metabolites, such as fumarate, can be used as predictive biomarkers "Our results provide clinicians with a new tool to better tailor treatment options for individual patients," said Dr eng Ge Source of information: Forecasting cancer versus audit risk in PTEN patients source: American Journal of human genetics (2019) Www.cell.com/ajhg/fulltext/s0002-9297 (19) 30343-x