Schizophrenia is one of the most common, devastating, and least understood neuropsychiatric illnesses present in the human population. Despite decades of research involving neurochemical, neuroanatomical, neuropathologic, neurodevelopmental, neuropsychological, and genetic approaches, no clear etiopathophysiology has been elucidated. Among the most robust findings, however, is the contribution of genetics to disease development. Statistical models suggest that susceptibility to the disorder is governed by the effects of multiple genes, coupled with environmental and stochastic factors. This review briefly summarizes recent etiopathologic findings and hypotheses, with special attention to genetics.
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http://dx.doi.org/10.4065/77.10.1068 | DOI Listing |
Front Genet
January 2023
Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India.
Hereditary pancreatitis (HP) is a rare debilitating disease with incompletely understood etio-pathophysiology. The reduced penetrance of genes such as PRSS1 associated with hereditary pancreatitis indicates a role for novel inherited factors. We performed whole-exome sequencing of three affected members of an Indian family (Father, Son, and Daughter) with chronic pancreatitis and compared variants with those seen in the unaffected mother.
View Article and Find Full Text PDFWorld J Biol Psychiatry
July 2023
Department of Psychiatry and Psychotherapy, Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg, Freiburg, Germany.
Introduction: The etio-pathophysiology of obsessive-compulsive disorder (OCD) can be explained using a biopsychosocial model. Little is known about obsessive-compulsive symptoms (OCS) in the context of chromosomal disorders involving the X chromosome.
Methods: Case studies of two patients with chromosomal disorders involving the X chromosome (Patient 1 with a variant of Turner syndrome and Patient 2 with triple X syndrome).
Antioxidants (Basel)
October 2022
Faculty of Medicine, University of Medicine and Pharmacy "Grigore T. Popa", University Street, no 16, 700115 Iasi, Romania.
Parkinson's disease (PD) is an enigmatic neurodegenerative disorder that is currently the subject of extensive research approaches aiming at deepening the understanding of its etiopathophysiology. Recent data suggest that distinct compounds used either as anticonvulsants or agents usually used as dopaminergic agonists or supplements consisting of live active lactic acid bacteria strains might alleviate and improve PD-related phenotypes. This is why we aimed to elucidate how the administration of rotenone (ROT) disrupts homeostasis and the possible neuroactive potential of valproic acid (VPA), antiparkinsonian agents (levodopa and carbidopa - LEV+CARB), and a mixture of six and three species (PROBIO) might re-establish the optimal internal parameters.
View Article and Find Full Text PDFHum Brain Mapp
November 2022
Maryland Psychiatric Research Center, Department of Psychiatry, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Severe mental illnesses (SMI), including major depressive (MDD), bipolar (BD), and schizophrenia spectrum (SSD) disorders have multifactorial risk factors and capturing their complex etiopathophysiology in an individual remains challenging. Regional vulnerability index (RVI) was used to measure individual's brain-wide similarity to the expected SMI patterns derived from meta-analytical studies. It is analogous to polygenic risk scores (PRS) that measure individual's similarity to genome-wide patterns in SMI.
View Article and Find Full Text PDFFront Neurosci
March 2022
Beaumont Health, Royal Oak, MI, United States.
Parkinson's disease (PD) is second most prevalent neurodegenerative disorder following Alzheimer's disease. Parkinson's disease is hypothesized to be caused by a multifaceted interplay between genetic and environmental factors. Herein, and for the first time, we describe the integration of metabolomics and epigenetics (genome-wide DNA methylation; epimetabolomics) to profile the frontal lobe from people who died from PD and compared them with age-, and sex-matched controls.
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