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Genetics of Uterine Leiomyomata
Published in John C. Petrozza, Uterine Fibroids, 2020
C. Scott Gallagher, Cynthia C. Morton
Alport syndrome with diffuse leiomyomatosis (AS-DL) is an X-linked-dominant, hereditary nephropathy associated with development of leiomyomata in the esophagus, tracheobronchial tree and genital tract [77–79]. Disease phenotypes observed in both AS and AS-DL are a consequence of abnormal basement membranes resulting from improper assembly of collagen IV protomers [80,81]. COL4A5 (collagen type IV alpha 5) and COL4A6 (collagen type IV alpha 6) reside in a head-to-head orientation on the X chromosome, and AS-DL is associated specifically with deletions spanning from the 5′ region of COL4A5 into the 5′ region of COL4A6 [78,79,82–84]. Of note, null mutations in the 5′ end of COL4A5 that do not extend into COL4A6 are sufficient to cause AS but insufficient to cause AS-DL [78,85]. WGS of isolated cases of UL without AS-DL have detected somatic deletions and rearrangements in the COL4A5-COL4A6 locus, further supporting a role for the two collagen type IV alpha chains in development and growth of UL [7,53].
RNA methylation-related genes of m6A, m5C, and m1A predict prognosis and immunotherapy response in cervical cancer
Published in Annals of Medicine, 2023
Yan Wang, Yiwen Mao, Caizhi Wang, Xuefeng Jiang, Qionglan Tang, Lingling Wang, Jialei Zhu, Mengqiu Zhao
KEGG and GSEA analyses were mainly enriched in the ECM-receptor interaction, focal adhesion, and wp pi3kakt signalling pathway, and they were closely associated with cancer progression [20–22]. Zhang et al. [20] found that metformin significantly inhibits the PI3K/AKT signaling pathway in CaSki, C33A, and HeLa cells, and induces apoptosis and cell cycle arrest in human cervical cancer cell lines (CaSki and HeLa). Hao et al. [21] found that miR-7 inhibits the metastasis and invasion of cervical cancer by targeting focal adhesion kinase (FAK). Ma et al. [22] found that downregulation of COL4A6 promotes prostate cancer progression and invasion and that COL4A6 and its promoter methylation status are important markers of prostate cancer prognosis. In this study, COL4A6 was found to be under-expressed in cervical cancer tissues and is a high-risk prognostic marker. GSEA reveal that COL4A6 may regulate ECM-receptor interaction, focal adhesion, and the wp pi3kakt signaling pathway. The m6A/m1A/m5C regulatory genes in this study are shown to be involved in various functions, previous studies have shown that m6A/m1A/m5C-regulated genes are strongly associated with CESC prognosis. However, the mechanism of the role of m6A/m1A/m5C regulatory genes in the progression of cervical cancer remains to be confirmed by further studies.
Bilateral Non-Arteritic Anterior Ischaemic Optic Neuropathy in a Patient with a COL4A2 Mutation
Published in Neuro-Ophthalmology, 2022
Kasim Qureshi, Muhammad U. Farooq, Avneet Deol, Christopher Glisson, Philip B. Gorelick
Type IV collagen is the primary collagen component of cellular basement membranes and the extracellular matrix that anchors cells and tissues. It performs a complex role as a signalling pathway regulator. The human genes COL4A1 through COL4A6 encode six chains that assemble into collagen IV molecules. Heterotrimers composed of Col4α1 and Col4α2 constitute the majority component of most basement membranes.8 Mutations in the COL4A1 and COL4A2 genes can contribute to several neurological diseases, such as myopathy, epilepsy, and glaucoma.8 Meta-analyses have also indicated an association between variations in the COL4A2 gene, symptomatic small vessel disease, and deep intracerebral haemorrhage.9