Generation of induced pluripotent stem cells derived from patients with 22q11.2 deletion syndrome as a tool for studying neurodevelopmental disorders
Аутори
Simeunović, IvanaČuturilo, Goran
Kovačević-Grujičić, Nataša
Petter, Olena
Perić, Mina
Kostić, Jovana
Harwood J., Adrian
Stevanović, Milena
Drakulić, Danijela
Конференцијски прилог (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Introduction: Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD), intellectual disability (ID),schizophrenia, and bipolar disorder, are caused by the alterationsin early brain development. They affect approximately 4% of the European population and represent a high
socio-economic impact and financial burden. Treatments of NDDs are focused on symptoms since molecular mechanisms underlying NDDs are still unknown. One of the syndromes with a high risk for NDDs
is 22q11.2 Deletion Syndrome (22q11.2DS) caused by microdeletion 22q11.2. 22q11.2 microdeletion is
the most common microdeletion in humans; it is one of the strongest known risk factorsfor development
of psychiatric illness and the highest known genetic risk for schizophrenia (approximately, 25% of patients with 22q11.2DS develop schizophrenia compared to 1% in the general population).
Methods: Genomic and clinical findings in 35 patients with 22q11.2DS were analyzed and peripheral
blood mononuclear c...ells of patients with 22q11.2DS and healthy controls were reprogrammed.
Results: The majority of patients have 3 Mb deletion and nine of them have inherited 22q11.2 microdeletion from parents. Twenty-one different clinical presentations are revealed in the cohort with developmental delay detected in about 50% of patients. iPSCs were generated from four patients with
22q11.2 microdeletion and five healthy controls.
Conclusion: Cohort of patients with 22q11.2DS isform and iPSCs were generated which enable research
of molecular mechanisms underlying NDDs.
Кључне речи:
22q11.2 Deletion Syndrome / neurodevelopmental disorders / iPSCsИзвор:
CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia, 2023, 84-84Издавач:
- Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade
Финансирање / пројекти:
- European Union`s Horizon Europe programme (Grant Agreement Number 101060201 (STREAMLINE))
- Министарство науке, технолошког развоја и иновација Републике Србије, институционално финансирање - 200042 (Универзитет у Београду, Институт за молекуларну генетику и генетичко инжењерство) (RS-MESTD-inst-2020-200042)
- Serbian Academy of Sciences and Arts (Grant number F-172)
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - CONF AU - Simeunović, Ivana AU - Čuturilo, Goran AU - Kovačević-Grujičić, Nataša AU - Petter, Olena AU - Perić, Mina AU - Kostić, Jovana AU - Harwood J., Adrian AU - Stevanović, Milena AU - Drakulić, Danijela PY - 2023 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/2138 AB - Introduction: Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD), intellectual disability (ID),schizophrenia, and bipolar disorder, are caused by the alterationsin early brain development. They affect approximately 4% of the European population and represent a high socio-economic impact and financial burden. Treatments of NDDs are focused on symptoms since molecular mechanisms underlying NDDs are still unknown. One of the syndromes with a high risk for NDDs is 22q11.2 Deletion Syndrome (22q11.2DS) caused by microdeletion 22q11.2. 22q11.2 microdeletion is the most common microdeletion in humans; it is one of the strongest known risk factorsfor development of psychiatric illness and the highest known genetic risk for schizophrenia (approximately, 25% of patients with 22q11.2DS develop schizophrenia compared to 1% in the general population). Methods: Genomic and clinical findings in 35 patients with 22q11.2DS were analyzed and peripheral blood mononuclear cells of patients with 22q11.2DS and healthy controls were reprogrammed. Results: The majority of patients have 3 Mb deletion and nine of them have inherited 22q11.2 microdeletion from parents. Twenty-one different clinical presentations are revealed in the cohort with developmental delay detected in about 50% of patients. iPSCs were generated from four patients with 22q11.2 microdeletion and five healthy controls. Conclusion: Cohort of patients with 22q11.2DS isform and iPSCs were generated which enable research of molecular mechanisms underlying 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 - Generation of induced pluripotent stem cells derived from patients with 22q11.2 deletion syndrome as a tool for studying neurodevelopmental disorders EP - 84 SP - 84 UR - https://hdl.handle.net/21.15107/rcub_imagine_2138 ER -
@conference{ author = "Simeunović, Ivana and Čuturilo, Goran and Kovačević-Grujičić, Nataša and Petter, Olena and Perić, Mina and Kostić, Jovana and Harwood J., Adrian and Stevanović, Milena and Drakulić, Danijela", year = "2023", abstract = "Introduction: Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD), intellectual disability (ID),schizophrenia, and bipolar disorder, are caused by the alterationsin early brain development. They affect approximately 4% of the European population and represent a high socio-economic impact and financial burden. Treatments of NDDs are focused on symptoms since molecular mechanisms underlying NDDs are still unknown. One of the syndromes with a high risk for NDDs is 22q11.2 Deletion Syndrome (22q11.2DS) caused by microdeletion 22q11.2. 22q11.2 microdeletion is the most common microdeletion in humans; it is one of the strongest known risk factorsfor development of psychiatric illness and the highest known genetic risk for schizophrenia (approximately, 25% of patients with 22q11.2DS develop schizophrenia compared to 1% in the general population). Methods: Genomic and clinical findings in 35 patients with 22q11.2DS were analyzed and peripheral blood mononuclear cells of patients with 22q11.2DS and healthy controls were reprogrammed. Results: The majority of patients have 3 Mb deletion and nine of them have inherited 22q11.2 microdeletion from parents. Twenty-one different clinical presentations are revealed in the cohort with developmental delay detected in about 50% of patients. iPSCs were generated from four patients with 22q11.2 microdeletion and five healthy controls. Conclusion: Cohort of patients with 22q11.2DS isform and iPSCs were generated which enable research of molecular mechanisms underlying 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 = "Generation of induced pluripotent stem cells derived from patients with 22q11.2 deletion syndrome as a tool for studying neurodevelopmental disorders", pages = "84-84", url = "https://hdl.handle.net/21.15107/rcub_imagine_2138" }
Simeunović, I., Čuturilo, G., Kovačević-Grujičić, N., Petter, O., Perić, M., Kostić, J., Harwood J., A., Stevanović, M.,& Drakulić, D.. (2023). Generation of induced pluripotent stem cells derived from patients with 22q11.2 deletion syndrome as a tool 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., 84-84. https://hdl.handle.net/21.15107/rcub_imagine_2138
Simeunović I, Čuturilo G, Kovačević-Grujičić N, Petter O, Perić M, Kostić J, Harwood J. A, Stevanović M, Drakulić D. Generation of induced pluripotent stem cells derived from patients with 22q11.2 deletion syndrome as a tool 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;:84-84. https://hdl.handle.net/21.15107/rcub_imagine_2138 .
Simeunović, Ivana, Čuturilo, Goran, Kovačević-Grujičić, Nataša, Petter, Olena, Perić, Mina, Kostić, Jovana, Harwood J., Adrian, Stevanović, Milena, Drakulić, Danijela, "Generation of induced pluripotent stem cells derived from patients with 22q11.2 deletion syndrome as a tool 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):84-84, https://hdl.handle.net/21.15107/rcub_imagine_2138 .