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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
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Alzheimer's Disease: Overview01:26

Alzheimer's Disease: Overview

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Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
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Mutation, Gene Flow, and Genetic Drift01:09

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Incomplete Dominance01:43

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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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Dementia01:30

Dementia

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Dementia is a collective term for cognitive disorders primarily affecting memory, thinking, and reasoning. It is not a specific disease but a syndrome, with Alzheimer's disease being the most common cause, accounting for approximately 60-80% of cases. Other types include vascular dementia, Lewy body dementia, and frontotemporal dementia. Dementia affects millions worldwide, particularly older adults, though it is not a normal part of aging.
The progression of dementia is generally gradual....
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[Genetic Diversity in Frontotemporal Dementia].

Yu A Shpilyukova1,2, E Yu Fedotova1, S N Illarioshkin1

  • 1Research Center of Neurology, Moscow, 125367 Russia.

Molekuliarnaia Biologiia
|March 13, 2020
PubMed
Summary

Frontotemporal dementia (FTD) is a common neurodegenerative disorder with diverse causes. This review details FTD genes, mechanisms, and clinical features, particularly those linked to amyotrophic lateral sclerosis.

Keywords:
DNA diagnosticsamyotrophic lateral sclerosisfrontotemporal dementiagenetic counseling

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Area of Science:

  • Neurology
  • Genetics
  • Pathomorphology

Background:

  • Frontotemporal dementia (FTD) is a significant neurodegenerative disorder characterized by high clinical, genetic, and pathomorphological diversity.
  • It ranks as the third most common cause of dementia across all age groups and the primary cause of early-onset dementia (under 65).
  • Approximately 40% of FTD cases have a familial history, with autosomal dominant inheritance observed in a quarter of these instances.

Purpose of the Study:

  • To review key genes associated with frontotemporal dementia development.
  • To elucidate the pathogenic mechanisms underlying the neurodegenerative process in FTD.
  • To present clinical features of FTD across different genetic variants, with a focus on FTD phenotypes linked to amyotrophic lateral sclerosis.

Main Methods:

  • Literature review of genetic factors in frontotemporal dementia.
  • Analysis of pathogenic mechanisms in neurodegeneration.
  • Compilation of clinical data for genetic variants of FTD.

Main Results:

  • Identification of critical genes implicated in FTD.
  • Understanding of diverse pathogenic pathways contributing to FTD.
  • Correlation of specific genetic variations with distinct clinical presentations, including FTD-ALS.

Conclusions:

  • FTD exhibits significant genetic heterogeneity and diverse clinical manifestations.
  • Understanding the genetic underpinnings and pathogenic mechanisms is crucial for diagnosing and managing FTD.
  • Further research into FTD, especially its overlap with amyotrophic lateral sclerosis, is warranted.