Generation of a human induced pluripotent stem cell (iPSC) line from a 51-year-old female with attention-deficit/hyperactivity disorder (ADHD) carrying a duplication of SLC2A3

Jansch, Charline; Günther, Katharina; Waider, Jonas; Ziegler, Georg C.; Forero, Andrea; Kollert, Sina; Svirin, Evgeniy; Pühringer, Dirk; Kwok, Chee Keong; Ullmann, Reinhard; Maierhofer, Anna; Flunkert, Julia; Haaf, Thomas; Edenhofer, Frank; Lesch, Klaus‐Peter

doi:10.1016/j.scr.2018.02.005

Cited by 11 publications

(8 citation statements)

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“…These genes are additionally involved in neurodevelopmental processes, further supporting a possible role in ADHD etiology (Hu et al 2011) (Breiderhoff et al 2013) (Yoo et al 2015) (Chen et al 2016). Several groups have reported the generation of iPSCs derived from ADHD patients (Jansch et al 2018;Re et al 2018;Sochacki et al 2016b;Tong et al 2019). However, functional analyses of these new cell lines were not conducted, and therefore form the next logical step of investigation.…”

Section: Attention-deficit/hyperactivity Disordermentioning

confidence: 99%

Mental health dished up—the use of iPSC models in neuropsychiatric research

et al. 2020

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Genetic and molecular mechanisms that play a causal role in mental illnesses are challenging to elucidate, particularly as there is a lack of relevant in vitro and in vivo models. However, the advent of induced pluripotent stem cell (iPSC) technology has provided researchers with a novel toolbox. We conducted a systematic review using the PRISMA statement. A PubMed and Web of Science online search was performed (studies published between 2006–2020) using the following search strategy: hiPSC OR iPSC OR iPS OR stem cells AND schizophrenia disorder OR personality disorder OR antisocial personality disorder OR psychopathy OR bipolar disorder OR major depressive disorder OR obsessive compulsive disorder OR anxiety disorder OR substance use disorder OR alcohol use disorder OR nicotine use disorder OR opioid use disorder OR eating disorder OR anorexia nervosa OR attention-deficit/hyperactivity disorder OR gaming disorder. Using the above search criteria, a total of 3515 studies were found. After screening, a final total of 56 studies were deemed eligible for inclusion in our study. Using iPSC technology, psychiatric disease can be studied in the context of a patient’s own unique genetic background. This has allowed great strides to be made into uncovering the etiology of psychiatric disease, as well as providing a unique paradigm for drug testing. However, there is a lack of data for certain psychiatric disorders and several limitations to present iPSC-based studies, leading us to discuss how this field may progress in the next years to increase its utility in the battle to understand psychiatric disease.

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Section: Attention-deficit/hyperactivity Disordermentioning

confidence: 99%

Mental health dished up—the use of iPSC models in neuropsychiatric research

et al. 2020

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“…Thus, by interfering with GLUT3 expression, and thereby with intracellular glucose levels, the maturation of disorder-relevant brain circuits might be compromised. The recent generation of a patient-specific cellular GLUT3 model might answer such molecular questions in the future (Jansch et al, 2018). Conditional ablation of Slc2a3 in the neurons of mice led to developmental defects, less brain weight and cortical thickness.…”

Section: Discussionmentioning

confidence: 99%

Transcript Analysis of Zebrafish GLUT3 Genes, slc2a3a and slc2a3b, Define Overlapping as Well as Distinct Expression Domains in the Zebrafish (Danio rerio) Central Nervous System

Lechermeier

Zimmer

Lüffe

et al. 2019

Front. Mol. Neurosci.

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The transport of glucose across the cell plasma membrane is vital to most mammalian cells. The glucose transporter (GLUT; also called SLC2A) family of transmembrane solute carriers is responsible for this function in vivo . GLUT proteins encompass 14 different isoforms in humans with different cell type-specific expression patterns and activities. Central to glucose utilization and delivery in the brain is the neuronally expressed GLUT3. Recent research has shown an involvement of GLUT3 genetic variation or altered expression in several different brain disorders, including Huntington’s and Alzheimer’s diseases. Furthermore, GLUT3 was identified as a potential risk gene for multiple psychiatric disorders. To study the role of GLUT3 in brain function and disease a more detailed knowledge of its expression in model organisms is needed. Zebrafish ( Danio rerio ) has in recent years gained popularity as a model organism for brain research and is now well-established for modeling psychiatric disorders. Here, we have analyzed the sequence of GLUT3 orthologs and identified two paralogous genes in the zebrafish, slc2a3a and slc2a3b . Interestingly, the Glut3b protein sequence contains a unique stretch of amino acids, which may be important for functional regulation. The slc2a3a transcript is detectable in the central nervous system including distinct cellular populations in telencephalon, diencephalon, mesencephalon and rhombencephalon at embryonic and larval stages. Conversely, the slc2a3b transcript shows a rather diffuse expression pattern at different embryonic stages and brain regions. Expression of slc2a3a is maintained in the adult brain and is found in the telencephalon, diencephalon, mesencephalon, cerebellum and medulla oblongata. The slc2a3b transcripts are present in overlapping as well as distinct regions compared to slc2a3a . Double in situ hybridizations were used to demonstrate that slc2a3a is expressed by some GABAergic neurons at embryonic stages. This detailed description of zebrafish slc2a3a and slc2a3b expression at developmental and adult stages paves the way for further investigations of normal GLUT3 function and its role in brain disorders.

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“…Nevertheless, the limited knowledge that we have of the developmental origin of ADHD and the implicated molecular and cellular mechanisms led to the development of rapid and low-cost human-specific in vitro models. The generation of ADHD patient-derived iPSCs has been reported ( Sochacki et al, 2016 ; Jansch et al, 2018 ), offering the unique potential to bridge the gap between genetic and neural network associations in ADHD in a human-specific environment. Screening of drugs and chemicals was achieved by developing brain organoids providing a cheaper, faster, and more biologically relevant model ( Schwartz et al, 2015 ) in understanding the environmental predisposition in ADHD ( Figure 1B ).…”

Section: Using the Correct System In Modeling Neurodevelopmental Diso...mentioning

confidence: 99%

Research models of neurodevelopmental disorders: The right model in the right place

Damianidou

Mouratidou²,

Kyrousi³

2022

Front. Neurosci.

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Neurodevelopmental disorders (NDDs) are a heterogeneous group of impairments that affect the development of the central nervous system leading to abnormal brain function. NDDs affect a great percentage of the population worldwide, imposing a high societal and economic burden and thus, interest in this field has widely grown in recent years. Nevertheless, the complexity of human brain development and function as well as the limitations regarding human tissue usage make their modeling challenging. Animal models play a central role in the investigation of the implicated molecular and cellular mechanisms, however many of them display key differences regarding human phenotype and in many cases, they partially or completely fail to recapitulate them. Although in vitro two-dimensional (2D) human-specific models have been highly used to address some of these limitations, they lack crucial features such as complexity and heterogeneity. In this review, we will discuss the advantages, limitations and future applications of in vivo and in vitro models that are used today to model NDDs. Additionally, we will describe the recent development of 3-dimensional brain (3D) organoids which offer a promising approach as human-specific in vitro models to decipher these complex disorders.

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Generation of a human induced pluripotent stem cell (iPSC) line from a 51-year-old female with attention-deficit/hyperactivity disorder (ADHD) carrying a duplication of SLC2A3

Cited by 11 publications

References 4 publications

Mental health dished up—the use of iPSC models in neuropsychiatric research

Mental health dished up—the use of iPSC models in neuropsychiatric research

Transcript Analysis of Zebrafish GLUT3 Genes, slc2a3a and slc2a3b, Define Overlapping as Well as Distinct Expression Domains in the Zebrafish (Danio rerio) Central Nervous System

Research models of neurodevelopmental disorders: The right model in the right place

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