Evaluation of the Genetic Association and mRNA Expression of the COL1A1, BMP2, and BMP4 Genes in the Development of Otosclerosis

Hansdah, Kirtal; Singh, Neha; Bouzid, Amal; Priyadarshi, Saurabh; Ray, Chinmay Sundar; Desai, Ashim; Panda, Khirod Chandra; Choudhury, Jyotish Chandra; Biswal, Narayan Chandra; Tekari, Adel; Masmoudi, Saber; Ramchander, Puppala Venkat

doi:10.1089/gtmb.2019.0235

Cited by 8 publications

(3 citation statements)

References 40 publications

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“…BMP is a crucial member of the TGF-β superfamily. The expression levels of BMP-2 and BMP-4 changes periodically during the HF cycle 12 . The Notch signaling pathway is essential for maintaining follicle structure and facilitating follicle formation and reepithelialization 13 .…”

Section: Hf Morphogenesis and Developmentmentioning

confidence: 99%

Status of research on the development and regeneration of hair follicles

Liu,

Xu,

Meng

et al. 2024

Int. J. Med. Sci.

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Hair loss, or alopecia, is a prevalent condition in modern society that imposes substantial mental and psychological burden on individuals. The types of hair loss, include androgenetic alopecia, alopecia areata, and telogen effluvium; of them, androgenetic alopecia is the most common condition. Traditional treatment modalities mainly involve medical options, such as minoxidil, finasteride and surgical interventions, such as hair transplantation. However, these treatments still have many limitations. Therefore, exploring the pathogenesis of hair loss, specifically focusing on the development and regeneration of hair follicles (HFs), and developing new strategies for promoting hair regrowth are essential. Some emerging therapies for hair loss have gained prominence; these therapies include low-level laser therapy, micro needling, fractional radio frequency, platelet-rich plasma, and stem cell therapy. The aforementioned therapeutic strategies appear promising for hair loss management. In this review, we investigated the mechanisms underlying HF development and regeneration. For this, we studied the structure, development, cycle, and cellular function of HFs. In addition, we analyzed the symptoms, types, and causes of hair loss as well as its current conventional treatments. Our study provides an overview of the most effective regenerative medicine-based therapies for hair loss.

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Section: Hf Morphogenesis and Developmentmentioning

confidence: 99%

Status of research on the development and regeneration of hair follicles

Liu,

Xu,

Meng

et al. 2024

Int. J. Med. Sci.

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“…BMP-2 and BMP-4 are associated with hair follicles and are currently one of the most popular research topics. Their expression also changes periodically with the hair follicle cycle [ 54 ].…”

Section: Reviewmentioning

confidence: 99%

Regulation of signaling pathways in hair follicle stem cells

Wang

Liu

et al. 2022

Burns &Amp; Trauma

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Hair follicle stem cells (HFSCs) reside in the bulge region of the outer root sheath of the hair follicle. They are considered slow-cycling cells that are endowed with multilineage differentiation potential and superior proliferative capacity. The normal morphology and periodic growth of HFSCs play a significant role in normal skin functions, wound repair and skin regeneration. The HFSCs involved in these pathophysiological processes are regulated by a series of cell signal transduction pathways, such as lymphoid enhancer factor/T-cell factor, Wnt/β-catenin, transforming growth factor-β/bone morphogenetic protein, Notch and Hedgehog. The mechanisms of the interactions among these signaling pathways and their regulatory effects on HFSCs have been previously studied, but many mechanisms are still unclear. This article reviews the regulation of hair follicles, HFSCs and related signaling pathways, with the aims of summarizing previous research results, revealing the regulatory mechanisms of HFSC proliferation and differentiation and providing important references and new ideas for treating clinical diseases.

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“…Despite intensive study on OTSC, till date ten monogenic loci has been mapped but have not yet identified the causal genes [ 4 , 5 ]. Several case-control studies reported a significant association of SNPs in COL1A1 [ 6 , 7 ] , TGF-β1 [ 8 , 9 ] , BMP2 [ 10 ], BMP4 [ 7 , 10 ] and OPG [ 11 , 12 ] genes with OTSC in different populations. Recently, high throughput sequencing has spotted certain pathogenic variants in MEPE , ACAN and SERPINF1 genes with unsettled pathogenicity [ 5 , 13 ].…”

Section: Introductionmentioning

confidence: 99%

The risks of RELN polymorphisms and its expression in the development of otosclerosis

et al. 2022

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Otosclerosis (OTSC) is the primary form of conductive hearing loss characterized by abnormal bone remodelling within the otic capsule of the human middle ear. A genetic association of the RELN SNP rs3914132 with OTSC has been identified in European population. Previously, we showed a trend towards association of this polymorphism with OTSC and identified a rare variant rs74503667 in a familial case. Here, we genotyped these variants in an Indian cohort composed of 254 OTSC cases and 262 controls. We detected a significant association of rs3914132 with OTSC (OR = 0.569, 95%CI = 0.386–0.838, p = 0.0041). To confirm this finding, we completed a meta-analysis which revealed a significant association of the rs3914132 polymorphism with OTSC (Z = 6.707, p<0.0001) across different ethnic populations. Linkage analysis found the evidence of linkage at RELN locus (LOD score 2.1059) in the OTSC family which has shown the transmission of rare variant rs74503667 in the affected individuals. To understand the role of RELN and its receptors in the development of OTSC, we went further to perform a functional analysis of RELN/reelin. Here we detected a reduced RELN (p = 0.0068) and VLDLR (p = 0.0348) mRNA levels in the otosclerotic stapes tissues. Furthermore, a reduced reelin protein expression by immunohistochemistry was confirmed in the otosclerotic tissues. Electrophoretic mobility shift assays for rs3914132 and rs74503667 variants revealed an altered binding of transcription factors in the mutated sequences which indicates the regulatory role of these variations in the RELN gene regulation. Subsequently, we showed by scanning electron microscopy a change in stapes bone morphology of otosclerotic patients. In conclusion, this study evidenced that the rare variation rs74503667 and the common polymorphism rs3914132 in the RELN gene and its reduced expressions that were associated with OTSC.

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Evaluation of the Genetic Association and mRNA Expression of the COL1A1, BMP2, and BMP4 Genes in the Development of Otosclerosis

Cited by 8 publications

References 40 publications

Status of research on the development and regeneration of hair follicles

Status of research on the development and regeneration of hair follicles

Regulation of signaling pathways in hair follicle stem cells

The risks of RELN polymorphisms and its expression in the development of otosclerosis

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