Muchas variantes de ADN relacionadas con los trastornos neuropsiquiátricos que no codifican proteínas podrían depender de la activación neuronal, revela un estudio multiómico.

https://www.science.org/doi/10.1126/science.adw3949?utm_medium=email&_hsenc=p2ANqtz-_Rbuzo-R2rHob2-SAkXgPrl3GUlD3gA61cHVJAzbdMSyFxbbnwSoNnWbzqYlWHKhT0sE7dhxYfrBbFzAh_LmffNXHHpw&_hsmi=139830047&utm_content=139841368&utm_source=hs_email&__cf_chl_f_tk=j0xs9E3zH2VokI5Y5KKblCWR15ijIwAcd3LOVnXMTzc-1783115687-1.0.1.1-yr9jkkewztAO1LC.j8WDgPaqYpGZ3JypcHZsV3GygzM Single-cell multiomics of neuron activation reveals context-specific genetics of brain disorders Lifan Liang https://orcid.org/0000-0002-2495-4779, Siwei Zhang https://orcid.org/0000-0002-1646-063X, Zicheng Wang https://orcid.org/0000-0002-3646-7572, Hanwen Zhang https://orcid.org/0000-0001-8490-918X, Chuxuan Li https://orcid.org/0009-0008-4553-7713, Christina Thapa https://orcid.org/0000-0003-0822-2911, Emily K. Oh https://orcid.org/0009-0002-6317-4473, David Sirkin https://orcid.org/0009-0005-9985-1052, Xiaotong Sun, [...] , and Jubao Duan Editor’s summary Despite a growing number of studies looking into genetic and transcriptomic correlations with neuropsychiatric conditions such as schizophrenia, the underlying biology of these diseases remains poorly understood. One reason for this disconnect may be that studies involving human samples are typically performed on dead tissue ex vivo, making it difficult to determine what genes had been activated in neurons before death. To address this issue, Liang et al. instead studied living neurons derived from induced pluripotent stem cells of human donors with or without a history of schizophrenia (see the Perspective by Zeng and Roussos). The authors identified some signaling pathways that are active only upon stimulation and appear to contribute to this disorder, including a link to cholesterol synthesis that may be targetable if its biological relevance is confirmed. —Yevgeniya Nusinovich