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This study found that the Odc1 gene, which encodes ornithine decarboxylase (ODC), was directly regulated by the androgen receptor (AR) in skeletal muscle myoblasts and played a role in myoblast proliferation and differentiation. Odc1 expression was significantly reduced in muscle from male muscle-specific AR knockout mice, indicating its regulation by AR. In vitro experiments showed that Odc1 expression was higher in proliferating myoblasts compared to differentiated myotubes, and dihydrotestosterone increased Odc1 levels in myoblasts. Inhibition of ODC activity reduced myoblast numbers, while overexpression of Odc1 increased cell numbers and delayed differentiation, as evidenced by reduced expression of differentiation markers. The study concluded that androgens upregulated Odc1 via the AR, promoting myoblast proliferation and delaying differentiation.

The study identified a novel missense mutation in the hairless (hr) gene, specifically a G to A transition at cDNA position 3034, resulting in a D1012N substitution, which was linked to congenital atrichia in a 17-year-old female with alopecia universalis congenita. This mutation was homozygous in the patient, heterozygous in her mother, and absent in her sister, and was not found in 326 chromosomes from healthy individuals, indicating it was not a common polymorphism. The mutation affected the hairless thyroid receptor interacting domain 2, crucial for binding to the thyroid hormone receptor, underscoring its functional importance. The findings enhanced the understanding of the genetic basis of congenital alopecias and the role of the hr gene, with implications for diagnosing hr-related disorders.

The study investigated three nonviral transfection systems for gene transfer in human keratinocytes, with a focus on the adenovirus-enhanced receptor-mediated (AVET) system. The AVET system showed superior efficiency, achieving a transfection rate of 28.8%, compared to lower rates with SuperFect and no success with PrimeFector. The presence of adenovirus was crucial for effective gene delivery. The study also found that slowly adhering keratinocytes were transfected more effectively, suggesting stem cells were less efficiently transfected. The AVET system was able to correct the enzymatic defect in keratinocytes from lamellar ichthyosis patients, but was unsuccessful in organotypic cultures due to barriers like the cornified layer. Overall, the AVET system was a powerful tool for transient in vitro transfection of keratinocytes, with potential applications in gene therapy for skin diseases.