The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1.

The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1. Research Abstract Details 

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The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1. Abstract Text:

Yuri B Yurov,Ivan Y Iourov,Svetlana G Vorsanova,Irina A Demidova,Viktor S Kravetz,Alphia K Beresheva,Alexei D Kolotii,Viktor V Monakchov,Natalia A Uranova,Viktor M Vostrikov,Ilia V Soloviev,Thomas Liehr,Yuri B Yurov,Ivan Y Iourov,Svetlana G Vorsanova,Irina A Demidova,Viktor S Kravetz,Alphia K Beresheva,Alexei D Kolotii,Viktor V Monakchov,Natalia A Uranova,Viktor M Vostrikov,Ilia V Soloviev,Thomas Liehr,Yuri B Yurov,Ivan Y Iourov,Svetlana G Vorsanova,Irina A Demidova,Viktor S Kravetz,Alphia K Beresheva,Alexei D Kolotii,Viktor V Monakchov,Natalia A Uranova,Viktor M Vostrikov,Ilia V Soloviev,Thomas Liehr,

OBJECTIVE: Genetic instability manifested as loss or gain of whole chromosomes (aneuploidy) is a newly described feature of the human brain. Aneuploidy in the brain was hypothesized to be involved in schizophrenia pathogenesis. To gain further insights into the relationship between aneuploidy in the brain and schizophrenia pathogenesis, a molecular-cytogenetic study of chromosome 1 aneuploidy was performed. METHODS: Interphase multiprobe fluorescence in situ hybridization (FISH) with quantitative FISH (QFISH) and interphase chromosome-specific multicolor banding (ICS-MCB) were used to define aneuploidy rate in 12 unaffected and 12 schizophrenia brains. RESULTS: In the unaffected brain (n=12; 22,794 cells analyzed), average frequencies of stochastic chromosome 1 loss and gain were 0.3% (95%CI 0.2-0.4%) and 0.3% (95%CI 0.2-0.4%), respectively. The threshold level for stochastic chromosome gain and loss (the mean+3SD) in the normal brain was 0.7%. Average rate of aneuploidy in the schizophrenia brain (n=12; 28,482 cells analyzed) was 0.9% (95%CI 0.3-1.5%) for chromosome 1 loss and 0.9% (95%CI 0.2-1.7%) for chromosome 1 gain. Significantly increased level of mosaic aneuploidy involving chromosome 1 was revealed in two schizophrenia brains (3.6% and 4.7% of cells with chromosome 1 loss and gain, respectively). Stochastic aneuploidy rate for chromosome 1 in the schizophrenia brain without two outliers (n=10) reached 0.6% (95%CI 0.3-0.9%) for loss and 0.5% (0.2-0.9%) for gain and was higher than in controls (P=0.005 and P=0.001, respectively). CONCLUSIONS: Our findings support the hypothesis suggesting that subtle genomic imbalances manifesting as low-level mosaic aneuploidy may contribute to schizophrenia pathogenesis.

The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1. Publishing Authors By Initials

YB Yurov,IY Iourov,SG Vorsanova,IA Demidova,VS Kravetz,AK Beresheva,AD Kolotii,VV Monakchov,NA Uranova,VM Vostrikov,IV Soloviev,T Liehr,YB Yurov,IY Iourov,SG Vorsanova,IA Demidova,VS Kravetz,AK Beresheva,AD Kolotii,VV Monakchov,NA Uranova,VM Vostrikov,IV Soloviev,T Liehr,YB Yurov,IY Iourov,SG Vorsanova,IA Demidova,VS Kravetz,AK Beresheva,AD Kolotii,VV Monakchov,NA Uranova,VM Vostrikov,IV Soloviev,T Liehr,

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The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Schizophrenia research

VOLUME: 98

Page Numbers: 139-47

Journal Abbreviation: Schizophr. Res.

ISSN: 0920-9964

DAY: 21

MONTH: 09

YEAR: 2007

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LANGUAGE: eng

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AFFILIATION: National Research Center of Mental Health, Russian Academy of Medical Sciences, Moscow119152, Russian Federation; Institute of Pediatrics and Children Surgery, Roszdrav, Moscow 127412, Russian Federation.

Country: Netherlands

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MEDLINETA: Schizophr Res

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