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Several body functions deteriorate with age. The external signs of aging are easily identifiable. For example, the skin becomes dry, less elastic, and thins out, forming wrinkles. The skin of the face begins to appear looser due to a decrease in the levels of elastic and collagen fibers in the connective tissue. Additionally, melanin production in the hair follicle decreases with age, resulting in gray hair. Moreover, the senses of sight and hearing decline, so glasses and hearing aids may...
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Aging01:26

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Aging is a complex biological phenomenon influenced by various processes that affect cellular and systemic functions. Several prominent theories attempt to explain its mechanisms, highlighting cellular limitations, oxidative damage, and hormonal changes as central factors in aging.
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Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
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Mitochondria are eukaryotic cellular organelles that are known to produce energy through a process called oxidative phosphorylation. Besides their primary function, mitochondria are involved in various cellular processes, including cell growth, differentiation, signaling, metabolism, and senescence. Age-related changes cause a decline in mitochondrial quality and integrity due to increased mitochondrial mutations and oxidative damage. Thus, aging can severely impact mitochondrial functions,...
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Age-related pharmacokinetic changes are extensively documented, but understanding age-related pharmacodynamic alterations is relatively limited. This knowledge gap can be partly attributed to the complexity of developing appropriate measures of drug responses compared to bioanalytical methods for determining drug concentrations.Most information regarding age-related differences in human pharmacodynamics originates from cross-sectional studies. However, these studies assume that observed mean...
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Related Experiment Video

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A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
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The external phenotype of aging.

Raoul C M Hennekam1

  • 1Department of Paediatrics, Room H7-236, Amsterdam UMC - location AMC, Meibergdreef 9, 1105AZ, Amsterdam, the Netherlands.

European Journal of Medical Genetics
|July 30, 2020
PubMed
Summary

Premature aging in Mendelian disorders offers insights into aging mechanisms. This study defines an external aging phenotype recognizable in clinical settings, aiding diagnosis without extensive testing.

Area of Science:

  • Gerontology and Genetics
  • Medical Research

Background:

  • Aging is typically studied as a physiological process.
  • Mendelian disorders can exhibit premature segmental aging, providing valuable insights into aging mechanisms.
  • Recognizing aging phenotypes in these disorders requires clear definitions.

Purpose of the Study:

  • To describe an external phenotype of aging observable in Mendelian disorders.
  • To establish a recognizable clinical presentation of premature aging.
  • To aid in the diagnosis and understanding of aging in genetic conditions.

Main Methods:

  • Phenotypic description of aging signs and symptoms.
  • Integration and potential creation of definitions within established ontologies like Human Phenotype Ontology (HPO).
Keywords:
AgingDefinitionNomenclaturePhenotypePremature aging

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  • Clinical observation and documentation of external aging characteristics.

    • Main Results:

    • A defined external phenotype of aging for Mendelian disorders has been described.
    • The phenotype is recognizable during routine clinical consultations.
    • Definitions for existing signs/symptoms were incorporated, and new ones proposed.

    Conclusions:

    • The described external aging phenotype facilitates recognition of premature aging in Mendelian disorders.
    • This phenotype can be assessed without extensive laboratory investigations.
    • Further refinement of aging phenotype definitions is crucial for genetic disorder research.