Researchers have applied a novel stem cell model to map disease risk variants in human neurons, which could help increase our knowledge of the biological mechanisms of neuropsychiatric disorders such as autism and schizophrenia.
For the study, the team used a cellular model designed to enable future researchers to elucidate the disease mechanisms involving genome-wide association studies (GWAS) that characterize different risk alleles for psychiatric disorders.
The study focuses on mapping cis-regulatory elements in human neurons that can be linked to psychiatric disease heritability.
The team mapped cis-regulatory elements in human neurons derived from pluripotent stem cells, and that can be linked to psychiatric disease heritability. They then created variant-to-gene maps to interpret the function of the GWAS variants.
GWAS has identified thousands of neurological or psychiatric disease-associated variants, but the cellular mechanisms through which these variants drive diseases and traits remain largely elusive.
By characterizing these cell-type-specific gene expression patterns in human cell-derived neurons the team believes it could lead to the development of biomarkers that might detect neuropsychiatric disorders years before they manifest in patients, with the possibility of delaying their appearance and hopefully preventing them.
The Mount Sinai Hospital / Mount Sinai School of Medicine. “A stem cell model could help unravel the complex biology behind some psychiatric disorders.” ScienceDaily. ScienceDaily, 1 June 2022. <www.sciencedaily.com/releases/2022/06/220601170210.htm>.