Origin: A study has identified head development-related mutations that might explain schizophrenia. These somatic abnormalities are more prevalent in schizophrenia people ‘ brain cells than they are in inherited genes and occur after conception. Scientists identified single-nucleotide variations linked to impaired mental functions by scanning DNA from cells in the dorsal prefrontal cortex.
This finding emphasizes the value of studying both inherited and non-inherited hereditary elements. Economic triggers, like maternal infections, may likewise influence these mutations, suggesting new avenues for psychosis therapy. Researchers are working on developing new studies to improve the treatment of this challenging problem.
Important Information:
- Physiological variants, occurring after notion, are linked to dementia.
- More single-nucleotide abnormalities were discovered in dementia cases from the cerebral cortex.
- Climate factors, such as parental infection, may cause some mutations.
Origin: Mount Sinai Hospital
Scientists at the Icahn School of Medicine at Mount Sinai and Harvard Medical School collaborated on a study that found genetic mutations that take place while developing the head and may play a role in the development of schizophrenia.
The study,  , published , in , Science, reveals that in addition to chromosomes inherited from parents, specific mutations that arise after conception, called physiological abnormalities, may play a major role in the disorder’s growth. The document is titled” Bodily mosaicism in , schizophrenia , neurons reveals prenatal genetic processes”.
The research is the first to discover how specific abnormalities, known as single-nucleotide variants—tiny alterations in a single “letter” of the DNA code—may improve dementia risk alongside inherited genetic factors.
The researchers examined autopsy brain tissue from controls and those who had dementia. By sequencing DNA from cells in the , dorsolateral prefrontal cortex, a mental place important for mental function, the group identified single-nucleotide variations.
This study is significant because it found that people who suffer from schizophrenia had more of these mutations in certain brain DNA regions than those who do n’t have the condition. Some of these mutations are thought to disrupt important biological processes involved in , brain development  , and function, which could contribute to the symptoms of schizophrenia.
” This study provides an important insight into the genetic factors contributing to schizophrenia”, said co-senior author Andrew Chess, Ph. Dr., Icahn Mount Sinai Professor of Genetics and Genomic Sciences.
We now know that mutations arising during brain development may also contribute to the disease, beyond the inherited mutations we typically think of.
Schizophrenia is a significant public health issue because it affects about 1 % of the global population. This study adds a new layer of complexity to our understanding of the disease by highlighting the potential role of somatic mutations. Additionally, it emphasizes the value of examining both inherited and uninherited genetic variations to fully understand how schizophrenia develops.
Additionally, the researchers discovered that some of the mutations had a molecular signature that had previously been found in inflammation-associated mutations, which suggests that maternal maternal infection during pregnancy may contribute to the development of schizophrenia.
These findings could help shape upcoming therapeutic approaches by identifying novel genetic development targets.
This study marks a pioneering effort in exploring the role of single-nucleotide variants in schizophrenia. The authors intend to expand their research by examining a larger number of people and using modern DNA to study the genes more specifically that are affected by these and other somatic mutations.
The ultimate objective is to expand our understanding of how these genetic changes affect brain development and contribute to mental health disorders.
We hope to discover new pathways for potential therapeutic interventions as we continue to study these mutations and their effects on brain function. Chess added.
By increasing the number of cases we study and utilizing cutting-edge technologies, we hope to better understand the genetic mechanisms underlying schizophrenia and ultimately improve the lives of those who are affected by the condition.
About this research being done on schizophrenia and genetics
Author: Andrew Chess
Source: Mount Sinai Hospital
Contact: Andrew Chess – Mount Sinai Hospital
Image: The image is credited to Neuroscience News
Original Research: Closed access.
” Prenatal mutational processes are revealed in schizophrenia brains through somatic mosaicism.,” by Andrew Chess and al. Science
Abstract
Prenatal mutational processes are revealed in schizophrenia brains through somatic mosaicism.
The risk of schizophrenia (SCZ ) is modulated by germline mutations. Much less is known about the significance of mosaic somatic mutations in SCZ. Deep ( 239× ) whole-genome sequencing ( WGS ) of brain neurons from 61 SCZ cases and 25 controls postmortem identified mutations occurring during prenatal neurogenesis.
SCZ cases showed increased somatic variants in open chromatin, with increased mosaic CpG transversions ( CpG>, GpG ) and T>, G mutations at transcription factor binding sites ( TFBSs ) overlapping open chromatin, a result not seen in controls.
Some of these variants alter gene expression, including SCZ risk genes and genes involved in neurodevelopment.
Increased somatic mutations at developmental TFBSs have the potential to contribute to SCZ, even though these mutational processes can reflect a difference in the direct effects of disease.
