22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia.
Maria Karayiorgou1, Tony J Simon, Joseph A Gogos
1Department of Psychiatry, Columbia University Medical Center, 1051 Riverside Drive, New York, New York 10032, USA. mk2758@columbia.edu
Nature Reviews. Neuroscience
|May 21, 2010
Summary
Microdeletions in chromosome 22q11.2 are linked to cognitive impairments and schizophrenia. Research is uncovering the genetic and neural basis of these effects, potentially aiding the study of other genetic variants.
Area of Science:
- Genetics
- Neuroscience
- Psychiatry
Background:
- Microdeletions in chromosome 22q11.2 are increasingly recognized.
- These genetic variations are associated with significant psychological and cognitive deficits.
Purpose of the Study:
- To elucidate the link between 22q11.2 microdeletions and schizophrenia.
- To investigate the genetic and neural mechanisms underlying these deficits.
- To explore the implications for understanding other copy-number variants.
Main Methods:
- Review of recent human and animal model studies.
- Analysis of genetic and neural substrates.
- Correlation of findings with cognitive dysfunction and psychiatric disorders.
Main Results:
- A consistent pattern of cognitive and psychological impairments associated with 22q11.2 microdeletions.
- A strong association identified between this genetic lesion and schizophrenia.
- Emerging understanding of the complex genetic and neural alterations.
Conclusions:
- 22q11.2 microdeletions significantly impact cognitive and psychological functions, notably increasing schizophrenia risk.
- Ongoing research in human and animal models is revealing the underlying genetic and neural pathways.
- These insights may inform the study of other copy-number variants linked to cognitive and psychiatric conditions.
Related Concept Videos
01:29Biological Causes of Schizophrenia
Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin studies.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin studies.
02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
02:30Genomic Imprinting and Inheritance
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
02:18Alternative RNA Splicing
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
01:17Karyotyping
Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
01:43Sex Linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.