Essential genetic findings in neurodevelopmental disorders

Cardoso, Ana R.; Lopes-Marques, Mónica; Silva, Raquel M.; Serrano, Catarina; Amorim, António; Prata, Maria João; Azevedo, Luı́sa

doi:10.1186/s40246-019-0216-4

Cited by 55 publications

(39 citation statements)

References 94 publications

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“…1 Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. 2 Department of Neurology, Geisinger Health System, Wilkes Barre, PA, USA. 3 Translational Neuroscience, Conshohocken, PA, USA.…”

Section: Author Detailsmentioning

confidence: 99%

“…Neurodevelopment is a complex set of biological processes that result in the orderly development and maturation of the nervous system 1 . Any disruption in this tightly orchestrated chain of events may lead to altered brain development and to an abnormal neurodevelopmental phenotype [2][3][4] . Factors that can disrupt neurodevelopment are not fully delineated, but a significant proportion of neurodevelopmental risk is attributed to copy number variants (CNVs) 5,6 .…”

Section: Introductionmentioning

confidence: 99%

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Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature

Farrell

Lichtenstein

Harner³

et al. 2020

Transl Psychiatry

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The 15q11.2 BP1-BP2 (Burnside-Butler) deletion is a rare copy number variant impacting four genes (NIPA1, NIPA2, CYFIP1, and TUBGCP5), and carries increased risks for developmental delay, intellectual disability, and neuropsychiatric disorders (attention-deficit/hyperactivity disorder, autism, and psychosis). In this case report (supported by extensive developmental information and medication history), we present the complex clinical portrait of a 44-year-old woman with 15q11.2 BP1-BP2 deletion syndrome and chronic, treatment-resistant psychotic symptoms who has resided nearly her entire adult life in a long-term state psychiatric institution. Diagnostic and treatment implications are discussed.

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Section: Author Detailsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature

Farrell

Lichtenstein

Harner³

et al. 2020

Transl Psychiatry

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“…Neurodegenerative diseases and NDvDs are multifactorial disorders where environment and genetics play an important role for their development ( Cardoso et al, 2019 ; Dunn et al, 2019 ).…”

Section: Neurodegenerative and Neurodevelopmental Diseasesmentioning

confidence: 99%

Environment and Gene Association With Obesity and Their Impact on Neurodegenerative and Neurodevelopmental Diseases

2020

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Obesity is a multifactorial disease in which environmental conditions and several genes play an important role in the development of this disease. Obesity is associated with neurodegenerative diseases (Alzheimer, Parkinson, and Huntington diseases) and with neurodevelopmental diseases (autism disorder, schizophrenia, and fragile X syndrome). Some of the environmental conditions that lead to obesity are physical activity, alcohol consumption, socioeconomic status, parent feeding behavior, and diet. Interestingly, some of these environmental conditions are shared with neurodegenerative and neurodevelopmental diseases. Obesity impairs neurodevelopment abilities as memory and fine-motor skills. Moreover, maternal obesity affects the cognitive function and mental health of the offspring. The common biological mechanisms involved in obesity and neurodegenerative/neurodevelopmental diseases are insulin resistance, pro-inflammatory cytokines, and oxidative damage, among others, leading to impaired brain development or cell death. Obesogenic environmental conditions are not the only factors that influence neurodegenerative and neurodevelopmental diseases. In fact, several genes implicated in the leptin–melanocortin pathway ( LEP , LEPR , POMC , BDNF , MC4R , PCSK1 , SIM1 , BDNF , TrkB , etc.) are associated with obesity and neurodegenerative and neurodevelopmental diseases. Moreover, in the last decades, the discovery of new genes associated with obesity ( FTO, NRXN3, NPC1, NEGR1, MTCH2, GNPDA2 , among others) and with neurodegenerative or neurodevelopmental diseases ( APOE, CD38, SIRT1, TNF α, PAI-1, TREM2, SYT4, FMR1, TET3 , among others) had opened new pathways to comprehend the common mechanisms involved in these diseases. In conclusion, the obesogenic environmental conditions, the genes, and the interaction gene–environment would lead to a better understanding of the etiology of these diseases.

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“…In humans, the development of the brain is a sequential process orchestrated by dynamic patterns of gene expression and various intrinsic and extrinsic signaling molecules (Cardoso et al, 2019; Silva et al, 2019). This process start at the third week of embryonic development when the neuroectoderm folds to give shape to the neural tube (Stiles and Jernigan, 2010; Tau and Peterson, 2010).…”

Section: Modeling Synaptic Dysfunctions and Mental Disorders Using Humentioning

confidence: 99%

Early Actions of Neurotransmitters During Cortex Development and Maturation of Reprogrammed Neurons

Ojeda

Ávila

2019

Front. Synaptic Neurosci.

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The development of the brain is shaped by a myriad of factors among which neurotransmitters play remarkable roles before and during the formation and maturation of synaptic circuits. Cellular processes such as neurogenesis, morphological development, synaptogenesis and maturation of synapses are temporary and spatially regulated by the local or distal influence of neurotransmitters in the developing cortex. Thus, research on this area has contributed to the understanding of fundamental mechanisms of brain development and to shed light on the etiology of various human neurodevelopmental disorders such as autism and Rett syndrome (RTT), among others. Recently, the field of neuroscience has been shaken by an explosive advance of experimental approaches linked to the use of induced pluripotent stem cells and reprogrammed neurons. This new technology has allowed researchers for the first time to model in the lab the unique events that take place during early human brain development and to explore the mechanisms that cause synaptopathies. In this context, the role of neurotransmitters during early stages of cortex development is beginning to be re-evaluated and a revision of the state of the art has become necessary in a time when new protocols are being worked out to differentiate stem cells into functional neurons. New perspectives on reconsidering the function of neurotransmitters include opportunities for methodological advances, a better understanding of the origin of mental disorders and the potential for development of new treatments.

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Essential genetic findings in neurodevelopmental disorders

Cited by 55 publications

References 94 publications

Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature

Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature

Environment and Gene Association With Obesity and Their Impact on Neurodegenerative and Neurodevelopmental Diseases

Early Actions of Neurotransmitters During Cortex Development and Maturation of Reprogrammed Neurons

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