دورية أكاديمية
RNA sequencing and lipidomics uncovers novel pathomechanisms in recessive X-linked ichthyosis
| العنوان: | RNA sequencing and lipidomics uncovers novel pathomechanisms in recessive X-linked ichthyosis |
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| المؤلفون: | McGeoghan, F, Camera, E, Maiellaro, M, Menon, M, Huang, M, Dewan, P, Ziaj, S, Caley, MP, Donaldson, M, Enright, AJ, O'Toole, EA |
| بيانات النشر: | Frontiers Media |
| سنة النشر: | 2023 |
| المجموعة: | Queen Mary University of London: Queen Mary Research Online (QMRO) |
| مصطلحات موضوعية: | ichthyosis, skin barrier, steroid sulfatase, ceramides, lipidomics |
| الوصف: | Recessive X-linked ichthyosis (RXLI), a genetic disorder caused by deletion or point mutations of the steroid sulfatase (STS) gene, is the second most common form of ichthyosis. It is a disorder of keratinocyte cholesterol sulfate retention and the mechanism of extracutaneous phenotypes such as corneal opacities and attention deficit hyperactivity disorder are poorly understood. To understand the pathomechanisms of RXLI, the transcriptome of differentiated primary keratinocytes with STS knockdown was sequenced. The results were validated in a stable knockdown model of STS, to confirm STS specificity, and in RXLI skin. The results show that there was significantly reduced expression of genes related to epidermal differentiation and lipid metabolism, including ceramide and sphingolipid synthesis. In addition, there was significant downregulation of aldehyde dehydrogenase family members and the oxytocin receptor which have been linked to corneal transparency and behavioural disorders respectively, both of which are extracutaneous phenotypes of RXLI. These data provide a greater understanding of the causative mechanisms of RXLI’s cutaneous phenotype, and show that the keratinocyte transcriptome and lipidomics can give novel insights into the phenotype of patients with RXLI. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | unknown |
| العلاقة: | FRONTIERS IN MOLECULAR BIOSCIENCES; McGeoghan F, Camera E, Maiellaro M, Menon M, Huang M, Dewan P, Ziaj S, Caley MP, Donaldson M, Enright AJ and O’Toole EA (2023), RNA sequencing and lipidomics uncovers novel pathomechanisms in recessive Xlinked ichthyosis. Front. Mol. Biosci. 10:1176802. doi:10.3389/fmolb.2023.1176802; ARTN 1176802; https://qmro.qmul.ac.uk/xmlui/handle/123456789/95976Test |
| DOI: | 10.3389/fmolb.2023.1176802 |
| الإتاحة: | https://doi.org/10.3389/fmolb.2023.1176802Test https://qmro.qmul.ac.uk/xmlui/handle/123456789/95976Test |
| حقوق: | This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. ; © 2023 McGeoghan, Camera, Maiellaro, Menon, Huang, Dewan, Ziaj, Caley, Donaldson, Enright and O’Toole. |
| رقم الانضمام: | edsbas.26E61391 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3389/fmolb.2023.1176802 |
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