Aneuploidy in the normal and diseased brain
M A Kingsbury1, Y C Yung, S E Peterson
1Department of Molecular Biology, Helen L. Dorris Institute for the Study of Neurological and Psychiatric Disorders of Children and Adolescents, The Scripps Research Institute, La Jolla, California 92037, USA. kingsbu@scripps.edu
Cellular and Molecular Life Sciences : CMLS
|September 5, 2006
Summary
The brain contains both normal and aneuploid cells, challenging the idea of identical genomes. This genetic mosaicism may influence brain function and contribute to central nervous system disorders.
Area of Science:
- Neuroscience
- Genetics
- Cell Biology
Background:
- Historically, brain cells were assumed to possess identical genomes.
- Recent research reveals the brain is a genetic mosaic of aneuploid and euploid cells.
- Neural aneuploidy and mosaicism are under investigation for their roles in cellular diversity, signaling, and CNS diseases.
Purpose of the Study:
- To review current knowledge on neural aneuploidy.
- To explore the potential functions of aneuploid cells in normal and diseased brains.
- To speculate on the role of neural aneuploidy in sporadic CNS disorders, including cancer.
Main Methods:
- Literature review of studies on neural aneuploidy and mosaicism.
- Analysis of existing data on genetic variations in brain cells.
- Synthesis of findings related to aneuploidy in genetic diseases and sporadic CNS disorders.
Main Results:
- The brain exhibits genetic mosaicism with both aneuploid and euploid cells.
- Constitutive aneuploidy is linked to brain dysfunction in genetic disorders like Down syndrome.
- Aneuploid cells in normal individuals may have distinct functions and contribute to CNS diseases.
Conclusions:
- Neural aneuploidy is a significant factor in brain complexity and function.
- Aneuploid cells may play a role in both normal brain physiology and the pathogenesis of CNS disorders.
- Further research is needed to fully elucidate the impact of neural aneuploidy on brain health and disease.
Related Concept Videos
01:29Nondisjunction
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
01:21Nondisjunction
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
01:49Meiosis I
Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
01:37Neural Regulation
Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
01:28Disorders of the Nervous Tissue
Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
02:57Meiosis vs. Mitosis
Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...