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Home»Biology»Skin Microbiome Imbalance Linked to Rare Genetic Disorder Darier Disease
Biology

Skin Microbiome Imbalance Linked to Rare Genetic Disorder Darier Disease

October 18, 2024No Comments4 Mins Read
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Researchers have discovered a significant imbalance in the skin microbiome of individuals with Darier disease, a rare inherited skin disorder. The study found a dramatic increase in various Staphylococcus bacterial species, particularly S. aureus and S. epidermidis, along with a decrease in beneficial Cutibacterium acnes bacteria in the skin of Darier disease patients. These microbial changes may contribute to the inflammation and worsening of symptoms in this genetic condition.

Table 1 Clinical and genetic characteristics of Darier disease patients included in this study.

Skin Microbiome Imbalance in Darier Disease

Darier disease is a rare inherited skin disorder characterized by distinctive red, scaly patches and bumps, primarily affecting sebaceous areas of the body like the face, chest, and back. This condition is caused by genetic mutations that disrupt the proper functioning of the SERCA2 protein, which is essential for maintaining the skin’s barrier function.

The new study, led by researchers from Semmelweis University in Hungary, explores the role of the skin microbiome in the development and progression of Darier disease. The team analyzed skin samples from both lesional (affected) and non-lesional (unaffected) areas of Darier disease patients, as well as from healthy control individuals.

Dominance of Staphylococcus and Decline of Cutibacterium

The researchers found a significant imbalance in the skin microbiome of Darier disease patients compared to healthy controls. In the affected, lesional skin areas, there was a dramatic increase in the relative abundance of various Staphylococcus bacterial species, particularly S. aureus and S. epidermidis. These bacteria are known to be opportunistic pathogens that can cause skin infections when the skin’s barrier is compromised.

Conversely, the levels of Cutibacterium acnes (formerly known as Propionibacterium acnes) were significantly reduced in the lesional skin of Darier disease patients. Cutibacterium acnes is a commensal bacterium that plays a crucial role in maintaining skin health by inhibiting the growth of harmful microbes and modulating the immune system.

Implications for Disease Severity and Inflammation

The researchers suggest that the observed microbial imbalance, with the dominance of Staphylococcus species and the absence of Cutibacterium acnes, may contribute to the inflammation and exacerbation of symptoms in Darier disease.

Staphylococcus bacteria can potentially trigger an inflammatory response and worsen skin lesions, as they are capable of penetrating deeper into the skin layers and releasing pro-inflammatory compounds. Additionally, the reduced levels of Cutibacterium acnes may impair the skin’s natural defense mechanisms, further contributing to the disease progression.

Implications for Future Therapies

The findings of this study suggest that targeting the skin microbiome could be a promising avenue for the development of new therapies for Darier disease. Strategies to restore the balance of the skin microbiome, such as the use of probiotics or targeted antimicrobial treatments, may help alleviate the symptoms and potentially improve the quality of life for individuals with this rare genetic condition.

Further research is needed to fully understand the complex interplay between the skin microbiome, genetic factors, and the pathogenesis of Darier disease. Nevertheless, this study provides valuable insights into the role of the skin microbiome in this rare genodermatosis and opens up new possibilities for future therapeutic approaches.

Author credit: This article is based on research by Dóra Plázár, Zseraldin Metyovinyi, Norbert Kiss, András Bánvölgyi, Nóra Makra, Zsuzsanna Dunai, Balázs Mayer, Péter Holló, Márta Medvecz, Eszter Ostorházi.


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Cutibacterium acnes Darier disease genetic disorders skin health skin microbiome Staphylococcus
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