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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

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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%...
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Parkinson's Disease: Overview01:15

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Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
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Principles of Pharmacogenetics: Types of Genetic Variants01:27

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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Neural Regulation01:37

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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.
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Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
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Single Nucleotide Polymorphisms-SNPs01:05

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Related Experiment Video

Updated: Mar 1, 2026

Author Spotlight: Generating Neuronal Phenotypic Profiles - A Protocol to Culture and Image Human Midbrain Dopaminergic Neurons
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Structural genomic variations and Parkinson's disease.

Sara Bandrés-Ciga1, Clara Ruz1, Francisco J Barrero2

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Parkinson's disease (PD) is a multifactorial disorder. This review explores the role of understudied structural genomic variations in PD pathogenesis, offering new insights into its genetic causes.

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Area of Science:

  • Neuroscience
  • Genetics
  • Genomics

Background:

  • Parkinson's disease (PD) is the second most common neurodegenerative disorder, with increasing prevalence.
  • Historically viewed as non-genetic, PD is now understood as multifactorial, involving gene-environment interactions.
  • While specific genes are known causes or risk factors, the contribution of structural genomic variations remains underexplored.

Purpose of the Study:

  • To provide a comprehensive overview of structural genomic variants associated with Parkinson's disease pathogenesis.
  • To highlight the understudied role of structural variations in the genetic basis of PD.

Main Methods:

  • Literature review focusing on genetic studies of Parkinson's disease.
  • Analysis of research on Mendelian and risk factor genes in PD.
  • Examination of studies investigating structural genomic variations in PD.

Main Results:

  • Seven genes (SNCA, LRRK2, PARK2, DJ-1, PINK1, VPS35, ATP13A2) are established causes of Mendelian PD.
  • Gene variants in LRRK2 and GBA are significant worldwide risk factors for PD.
  • Structural genomic variations represent a potentially significant, yet understudied, component of PD's genetic architecture.

Conclusions:

  • Structural genomic variations may account for undiscovered genetic substrates contributing to PD.
  • Further research into structural variations is crucial for a complete understanding of PD's genetic underpinnings.
  • Understanding these variations could reveal novel pathogenic mechanisms and therapeutic targets for Parkinson's disease.