Establishment of induced pluripotent stem cells from patients with 22q11.2 duplication syndrome as a model system for studying neurodevelopmental disorders
Authors
Kostić, JovanaDrakulić, Danijela
Čuturilo, Goran
Petter, Olena
Perić, Mina
Simeunović, Ivana
Harwood J., Adrian
Stevanović, Milena
Kovačević-Grujičić, Nataša
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Introduction: Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD), schizophrenia, and intellectual disability, represent important public health challenge in modern societies
with a prevalence of about 10 to 15% of all births and the tendency of increasing worldwide. They are
caused by disruption of early brain development. Treatments of NDDs are focused on symptoms due to
a limited understanding of underlying pathophysiological mechanisms. Individuals with the 22q11.2
Duplication Syndrome (22q11.2dup), caused by heterozygous 22q11.2 microduplication, have an elevated risk of developing NDDs. Literature data revealed that ASD is detected in 14-25% of patients with
22q11.2dup while schizophrenia is less common in these patients than in the general population, suggesting that 22q11.2 duplication might be protective against schizophrenia.
Methods: Genomic and clinical findingsin patients with 22q11.2dup were analyzed and peripheral blood
mononuclear cells o...f patients with 22q11.2dup were reprogrammed.
Results: We formed a cohort of 8 patients with 22q11.2dup. The majority of patientsin our cohort have
microduplication of approximately 3Mb (80%). Also, the majority of them are familial cases and in 67%
of cases, the 22q11.2 microduplication is inherited from the mother. Congenital heart defects were detected in 25% of our patients, while all tested patients have facial dysmorphism. iPSCs were generated
from three patients with a familial form of 22q11.2dup and their mothers.
Conclusion: A cohort of patients with 22q11.2dup is formed and iPSCs were generated which can be
used as a model system for studying NDDs.
Keywords:
22q11.2 Duplication Syndrome / neurodevelopmental disorders / iPSCs / familial casesSource:
CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia, 2023, 66-66Publisher:
- Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade
Funding / projects:
- Ministry of Science, Technological Development and Innovation of the Republic of Serbia, institutional funding - 200042 (University of Belgrade, Institute of Molecular Genetics and Genetic Engineering) (RS-MESTD-inst-2020-200042)
- Serbian Academy of Sciences and Arts (Grant number F-172)
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Institut za molekularnu genetiku i genetičko inženjerstvoTY - CONF AU - Kostić, Jovana AU - Drakulić, Danijela AU - Čuturilo, Goran AU - Petter, Olena AU - Perić, Mina AU - Simeunović, Ivana AU - Harwood J., Adrian AU - Stevanović, Milena AU - Kovačević-Grujičić, Nataša PY - 2023 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/2122 AB - Introduction: Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD), schizophrenia, and intellectual disability, represent important public health challenge in modern societies with a prevalence of about 10 to 15% of all births and the tendency of increasing worldwide. They are caused by disruption of early brain development. Treatments of NDDs are focused on symptoms due to a limited understanding of underlying pathophysiological mechanisms. Individuals with the 22q11.2 Duplication Syndrome (22q11.2dup), caused by heterozygous 22q11.2 microduplication, have an elevated risk of developing NDDs. Literature data revealed that ASD is detected in 14-25% of patients with 22q11.2dup while schizophrenia is less common in these patients than in the general population, suggesting that 22q11.2 duplication might be protective against schizophrenia. Methods: Genomic and clinical findingsin patients with 22q11.2dup were analyzed and peripheral blood mononuclear cells of patients with 22q11.2dup were reprogrammed. Results: We formed a cohort of 8 patients with 22q11.2dup. The majority of patientsin our cohort have microduplication of approximately 3Mb (80%). Also, the majority of them are familial cases and in 67% of cases, the 22q11.2 microduplication is inherited from the mother. Congenital heart defects were detected in 25% of our patients, while all tested patients have facial dysmorphism. iPSCs were generated from three patients with a familial form of 22q11.2dup and their mothers. Conclusion: A cohort of patients with 22q11.2dup is formed and iPSCs were generated which can be used as a model system for studying NDDs. PB - Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade C3 - CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia T1 - Establishment of induced pluripotent stem cells from patients with 22q11.2 duplication syndrome as a model system for studying neurodevelopmental disorders EP - 66 SP - 66 UR - https://hdl.handle.net/21.15107/rcub_imagine_2122 ER -
@conference{ author = "Kostić, Jovana and Drakulić, Danijela and Čuturilo, Goran and Petter, Olena and Perić, Mina and Simeunović, Ivana and Harwood J., Adrian and Stevanović, Milena and Kovačević-Grujičić, Nataša", year = "2023", abstract = "Introduction: Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD), schizophrenia, and intellectual disability, represent important public health challenge in modern societies with a prevalence of about 10 to 15% of all births and the tendency of increasing worldwide. They are caused by disruption of early brain development. Treatments of NDDs are focused on symptoms due to a limited understanding of underlying pathophysiological mechanisms. Individuals with the 22q11.2 Duplication Syndrome (22q11.2dup), caused by heterozygous 22q11.2 microduplication, have an elevated risk of developing NDDs. Literature data revealed that ASD is detected in 14-25% of patients with 22q11.2dup while schizophrenia is less common in these patients than in the general population, suggesting that 22q11.2 duplication might be protective against schizophrenia. Methods: Genomic and clinical findingsin patients with 22q11.2dup were analyzed and peripheral blood mononuclear cells of patients with 22q11.2dup were reprogrammed. Results: We formed a cohort of 8 patients with 22q11.2dup. The majority of patientsin our cohort have microduplication of approximately 3Mb (80%). Also, the majority of them are familial cases and in 67% of cases, the 22q11.2 microduplication is inherited from the mother. Congenital heart defects were detected in 25% of our patients, while all tested patients have facial dysmorphism. iPSCs were generated from three patients with a familial form of 22q11.2dup and their mothers. Conclusion: A cohort of patients with 22q11.2dup is formed and iPSCs were generated which can be used as a model system for studying NDDs.", publisher = "Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade", journal = "CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia", title = "Establishment of induced pluripotent stem cells from patients with 22q11.2 duplication syndrome as a model system for studying neurodevelopmental disorders", pages = "66-66", url = "https://hdl.handle.net/21.15107/rcub_imagine_2122" }
Kostić, J., Drakulić, D., Čuturilo, G., Petter, O., Perić, M., Simeunović, I., Harwood J., A., Stevanović, M.,& Kovačević-Grujičić, N.. (2023). Establishment of induced pluripotent stem cells from patients with 22q11.2 duplication syndrome as a model system for studying neurodevelopmental disorders. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade., 66-66. https://hdl.handle.net/21.15107/rcub_imagine_2122
Kostić J, Drakulić D, Čuturilo G, Petter O, Perić M, Simeunović I, Harwood J. A, Stevanović M, Kovačević-Grujičić N. Establishment of induced pluripotent stem cells from patients with 22q11.2 duplication syndrome as a model system for studying neurodevelopmental disorders. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia. 2023;:66-66. https://hdl.handle.net/21.15107/rcub_imagine_2122 .
Kostić, Jovana, Drakulić, Danijela, Čuturilo, Goran, Petter, Olena, Perić, Mina, Simeunović, Ivana, Harwood J., Adrian, Stevanović, Milena, Kovačević-Grujičić, Nataša, "Establishment of induced pluripotent stem cells from patients with 22q11.2 duplication syndrome as a model system for studying neurodevelopmental disorders" in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia (2023):66-66, https://hdl.handle.net/21.15107/rcub_imagine_2122 .