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Updated: May 9, 2025
A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
Exploring skin aging-associated genotypes; Moving toward delivery of precision medicine-based care more than beyond
Sam Nowroozi1, Khalil Khashei Varnamkhasti2, Samire Khashei Varnamkhasti2
1Department of Genetics, College of Science, Kazerun Branch, Islamic Azad University, Kazerun, Iran.
Background:
Oxidative damage is the principal cellular disturbance in the skin aging. Missense polymorphisms strengthen or weaken detoxification enzyme activity. Determination of deleterious functional effects of polymorphisms in detoxification genes (NQO1 and EPHX1) in skin aging was the overall purpose of conducting this hospital-based research.
Methods:
Cases recruitment on dermatological examination-based evidence performed sequentially between November 2022, and April 2023 at the Motahari Hospital Dermatology Outpatient Clinic. Genotype analysis was performed using PCR-RFLP and T-ARMS -PCR. All statistical analyses were performed using SPSS software, and differences were taken as significant at P < 0.05.
Results:
This study results implicate that skin aging obtains on a genetic level and in particular the results suggest that His139Arg, Tyr113His and P187S represent true genetic susceptible loci for cutaneous aging related traits. We found that these new susceptibility loci exhibit sex- and age-specific effect on aging skin risk as well as implicated in interactions with modifiable risk factors including water intake, micronutrient care, sleeping habits, sun exposure and application of sunscreen cream, in the development of an increased risk of aging skin.
Conclusions:
Molecular defects associated with the His139Arg, Tyr113His and P187S polymorphisms manifest as an observable change in the external appearance of the skin. This study underscores the need to move toward scrutinizing the ageing skin changes at molecular levels.
Insights
Genetic variations in detoxification enzymes influence skin aging. Specific polymorphisms (His139Arg, Tyr113His, P187S) are linked to increased skin aging risk, interacting with lifestyle factors.
Area of Science:
- Dermatology
- Genetics
- Molecular Biology
Background:
- Oxidative damage is a primary factor in skin aging.
- Genetic variations in detoxification enzymes can alter their activity.
- Polymorphisms in NQO1 and EPHX1 genes are investigated for their role in skin aging.
Purpose of the Study:
- To determine the functional effects of polymorphisms in detoxification genes (NQO1 and EPHX1) on skin aging.
- To identify genetic susceptible loci for cutaneous aging traits.
Main Methods:
- Hospital-based case recruitment via dermatological examination.
- Genotype analysis using PCR-RFLP and T-ARMS-PCR.
- Statistical analysis using SPSS software with significance at P < 0.05.
Main Results:
- His139Arg, Tyr113His, and P187S polymorphisms are identified as genetic loci for skin aging.
- These loci show sex- and age-specific effects on aging risk.
- Interactions with lifestyle factors (water intake, sleep, sun exposure) influence aging risk.
Conclusions:
- Molecular defects linked to His139Arg, Tyr113His, and P187S polymorphisms correlate with visible skin aging.
- Further research into molecular mechanisms of skin aging is warranted.
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