{"id":1468,"date":"2021-06-08T15:03:08","date_gmt":"2021-06-08T18:03:08","guid":{"rendered":"https:\/\/petrusraulino.com.br\/?p=1468"},"modified":"2024-11-11T17:19:44","modified_gmt":"2024-11-11T20:19:44","slug":"ultra-rare-genetic-mutation-in-patients-with-schizophrenia","status":"publish","type":"post","link":"https:\/\/petrusraulino.com.br\/en\/ultra-rare-genetic-mutation-in-patients-with-schizophrenia\/","title":{"rendered":"Ultra-rare genetic mutation in schizophrenia patients"},"content":{"rendered":"

By Dr. Petrus Raulino<\/strong><\/em><\/p>\n

 <\/p>\n

What is Schizophrenia?<\/h2>\n

A schizophrenia<\/a> is a mental disorder that affects around 20 million people worldwide. Much research has identified the importance of the role of genes in this disorder.<\/span><\/p>\n

The genetics of schizophrenia are complex, multifactorial and polygenic. There are hundreds or perhaps thousands of genes involved in the disease.<\/span><\/p>\n

Given the enormous heterogeneity of the disease, each patient is practically unique in the combination of genes that led to the disorder.\u00a0<\/span><\/p>\n

The identification of rare genetic variants associated with schizophrenia has proved challenging due to the genetic heterogeneity of populations.\u00a0<\/span><\/p>\n

But a new genetic mutation that blocks neural communication has recently been discovered in patients with schizophrenia. It could pave the way for new therapeutic strategies and increase understanding of the disease's pathophysiology.<\/span><\/p>\n

This discovery was made through a study in <\/span>Feinstein Institutes for Medical Research <\/span><\/i>in the USA and published in the journal <\/span>Neuron.<\/span><\/i><\/p>\n

Study on genomes with schizophrenia<\/h2>\n

The study was carried out with a relatively homogeneous population, a cohort of Ashkenazi Jews, to examine the genomes<\/a> of patients diagnosed with schizophrenia and a control group.<\/span><\/p>\n

The aim of the study was to find isolated mutations that could be observed several times in the schizophrenia group. This was possible with the homogeneous group of Aszech Jews.\u00a0<\/span><\/p>\n

Study results<\/h3>\n

The gene mutation <\/span>PCDHA3<\/span><\/i> was identified in five of the 786 cases of schizophrenia. The gene mutation <\/span>PCDHA3<\/span><\/i> is an ultra-rare variant that was not found in any individual in the control group.<\/span><\/p>\n

The gene <\/span>PCDHA3 <\/span><\/i>derives from the protocadherin gene family and blocks its action, preventing neurons from recognizing each other and communicating with other neurons.<\/span><\/p>\n

Conclusion<\/h2>\n

Further studies will be essential to assess how the treatment of schizophrenia can improve any alterations caused by this genetic mutation.<\/span><\/p>\n

The discovery of the gene mutation <\/span>PCDHA3<\/span><\/i> in patients with schizophrenia does not have an immediate impact on clinical practice. But it does have scientific relevance, as it adds another piece to the understanding of the genetic basis of schizophrenia.<\/span><\/p>\n

 <\/p>\n

References<\/strong><\/h4>\n

Lencz, T., Yu, J., Khan, R. R., Flaherty, E., Carmi, S., Lam, M., ... & Pe'er, I. (2021). Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia.\u00a0<\/span>Neuron<\/span><\/i>.<\/span><\/p>\n

Charlson, F. J., Ferrari, A. J., Santomauro, D. F., Diminic, S., Stockings, E., Scott, J. G., ... & Whiteford, H. A. (2018). Global epidemiology and burden of schizophrenia: findings from the global burden of disease study 2016.\u00a0<\/span>Schizophrenia bulletin<\/span><\/i>,\u00a0<\/span>44<\/span><\/i>(6), 1195-1203.<\/span><\/p>\n

Mistry, S., Harrison, J. R., Smith, D. J., Escott-Price, V., & Zammit, S. (2018). The use of polygenic risk scores to identify phenotypes associated with genetic risk of schizophrenia: Systematic review.\u00a0<\/span>Schizophrenia research<\/span><\/i>,\u00a0<\/span>197<\/span><\/i>, 2-8.<\/span><\/p>\n

Avramopoulos, D. (2018). Recent advances in the genetics of schizophrenia.\u00a0<\/span>Molecular neuropsychiatry<\/span><\/i>,\u00a0<\/span>4<\/span><\/i>(1), 35-51.<\/span><\/p>\n

Henriksen, M. G., Nordgaard, J., & Jansson, L. B. (2017). Genetics of schizophrenia: overview of methods, findings and limitations.\u00a0<\/span>Frontiers in human neuroscience<\/span><\/i>,\u00a0<\/span>11<\/span><\/i>, 322.<\/span><\/p>","protected":false},"excerpt":{"rendered":"

Por Dr. Petrus Raulino   O que \u00e9 Esquizofrenia? A esquizofrenia \u00e9 um transtorno mental que acomete cerca de 20 milh\u00f5es de pessoas em todo o mundo. Muitas pesquisas t\u00eam identificado a import\u00e2ncia do papel dos genes nesse transtorno. A gen\u00e9tica da esquizofrenia \u00e9 complexa, multifatorial e polig\u00eanica. H\u00e1 centenas ou talvez milhares de genes […]<\/p>","protected":false},"author":4,"featured_media":1480,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_joinchat":[],"footnotes":""},"categories":[127,115,121,117],"tags":[],"class_list":["post-1468","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-biologia-e-saude-mental","category-informativo","category-saude-mental","category-transtornos-psicologicos"],"yoast_head":"\nMuta\u00e7\u00e3o gen\u00e9tica ultra rara em pacientes com esquizofrenia<\/title>\n<meta name=\"description\" content=\"Foi realizado um estudo com uma popula\u00e7\u00e3o relativamente homog\u00eanea para examinar os genomas de pacientes com esquizofrenia e um grupo controle.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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