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Under the support of the National Natural Science Foundation of China (Grant No.
81971292, 82071518), researcher Lin Guanning of Shanghai Jiaotong University and chief physician Wang Zhen of Shanghai Mental Health Center cooperated to analyze the ultra-rare obessive-compulsive disorder at the genome-wide level , OCD) mutation, and new progress has been made in the study of the etiology of obsessive-compulsive disorder
The lifetime prevalence of OCD is as high as 2%-3%.
For a long time, clinical experts and researchers believe that OCD is the result of the combined action of environmental factors and risk genes, but its etiology is complex and the pathological mechanism is still unclear
.
A growing number of studies suggest that ultra-rare but high penetrance mutations may be important factors in the pathogenesis of psychiatric disorders
In response to the above problems, the team of Wang Zhen and Lin Guanning conducted whole-genome sequencing of 53 nuclear families, comprehensively compared the gene sequences of OCD patients and their parents, and screened out rare new mutations (de novo mutations) that only exist in patients.
mutation, DNM)
.
The collaborative team found that 24 single-point and one large deletion mutations severely affected the structure of proteins that regulate chromatin modification (Panel A)
This study analyzed ultra-rare OCD mutations at the genome-wide level to study the etiology of obsessive-compulsive disorder, and found that the interaction of environmental factors and genetic factors leads to epigenetic disorders, which is very important for the study of the genetic mechanism of OCD
