Progress on the roles of MEF2C in neuropsychiatric diseases

Zhang, Zhikun; Zhao, Yongxiang

doi:10.1186/s13041-021-00892-6

Cited by 33 publications

(15 citation statements)

References 85 publications

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“…Analysis of overlapping genes suggests potential pleiotropic targets for the investigation of mood disorders and biological rhythms. Depression and sedentary behaviour showed an overlap in MEF2C , a protein-coding gene involved in processes such as cell differentiation and neurogenesis; studies implicate MEF2C in neuropsychiatric disorders (e.g., schizophrenia and autism) 55 and it is also involved in muscle activity and exercise 56 . CCDC36 , the gene overlapping between depression and relative amplitude, is important for meiosis and other cellular processes; it has been reported to contribute to both MD and attention deficit and hyperactivity disorder 57 .…”

Section: Discussionmentioning

confidence: 99%

Depression and bipolar disorder subtypes differ in their genetic correlations with biological rhythms

Sirignano

Streit

Frank

et al. 2022

Sci Rep

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Major Depression and Bipolar Disorder Type I (BIP-I) and Type II (BIP-II), are characterized by depressed, manic, and hypomanic episodes in which specific changes of physical activity, circadian rhythm, and sleep are observed. It is known that genetic factors contribute to variation in mood disorders and biological rhythms, but unclear to what extent there is an overlap between their underlying genetics. In the present study, data from genome-wide association studies were used to examine the genetic relationship between mood disorders and biological rhythms. We tested the genetic correlation of depression, BIP-I, and BIP-II with physical activity (overall physical activity, moderate activity, sedentary behaviour), circadian rhythm (relative amplitude), and sleep features (sleep duration, daytime sleepiness). Genetic correlations of depression, BIP-I, and BIP-II with biological rhythms were compared to discover commonalities and differences. A gene-based analysis tested for associations of single genes and common circadian genes with mood disorders. Depression was negatively correlated with overall physical activity and positively with sedentary behaviour, while BIP-I showed associations in the opposite direction. Depression and BIP-II had negative correlations with relative amplitude. All mood disorders were positively correlated with daytime sleepiness. Overall, we observed both genetic commonalities and differences across mood disorders in their relationships with biological rhythms: depression and BIP-I differed the most, while BIP-II was in an intermediate position. Gene-based analysis suggested potential targets for further investigation. The present results suggest shared genetic underpinnings for the clinically observed associations between mood disorders and biological rhythms. Research considering possible joint mechanisms may offer avenues for improving disease detection and treatment.

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Section: Discussionmentioning

confidence: 99%

Depression and bipolar disorder subtypes differ in their genetic correlations with biological rhythms

Sirignano

Streit

Frank

et al. 2022

Sci Rep

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“…In this case, POSTRE predicted a coding LOF mechanism, as the deletion eliminates one of the NR2F1 alleles. Both MEF2C and NR2F1 have been previously associated with neurodevelopmental deffects (Tocco et al, 2021; Zhang and Zhao, 2022). Therefore, the deletion could cause the loss of both NR2F1 and MEF2C function through distinct mechanisms, which in turn might define the phenotypic spectrum of this patient.…”

Section: Resultsmentioning

confidence: 99%

POSTRE: a tool to predict the pathological effects of human structural variants

Sánchez-Gaya

Rada-Iglesias

2022

Preprint

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Understanding the pathological impact of non-coding genetic variation is a major challenge in medical genetics. Accumulating evidences indicate that a significant fraction of genetic alterations, including structural variants (SVs), can cause human disease by altering the function of non-coding regulatory elements, such as enhancers. In the case of SVs, described pathomechanisms include changes in enhancer dosage and long-range enhancer-gene communication. However, there is still a clear gap between the need to predict and interpret the medical impact of non-coding variants, and the existence of tools to properly perform these tasks. To reduce this gap, we have developed POSTRE (Prediction Of STRuctural variant Effects), a computational tool to predict the pathogenicity of SVs implicated in a broad range of human congenital disorders. By considering disease-relevant cellular contexts, POSTRE identifies SVs with either coding or long range pathological consequences with high specificity and sensitivity. Furthermore, POSTRE not only identifies pathogenic SVs, but also predicts the disease-causative genes and the underlying pathological mechanism (e.g, gene deletion, enhancer disconnection, enhancer adoption, etc.). POSTRE is available at https://github.com/vicsanga/Postre.

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“…This gene is related to the disorders such as developmental and cognitive delay, limited language and walking, hypotonia and seizures [23] . Further studies shows the connection of this gene with neurodegenerative or neurophychiatric diseases [100] , [118] , [24] , [86] . However, there are few studies connecting this gene with COVID-19 infection in the literature [109] , [33] , which probably evidences the complications after COVID-19 infection.…”

Section: Study On the Selected Featuresmentioning

confidence: 91%

Role of different types of RNA molecules in the severity prediction of SARS-CoV-2 patients

Jeyananthan

2023

Pathology - Research and Practice

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Progress on the roles of MEF2C in neuropsychiatric diseases

Cited by 33 publications

References 85 publications

Depression and bipolar disorder subtypes differ in their genetic correlations with biological rhythms

Depression and bipolar disorder subtypes differ in their genetic correlations with biological rhythms

POSTRE: a tool to predict the pathological effects of human structural variants

Role of different types of RNA molecules in the severity prediction of SARS-CoV-2 patients

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