Ultrastructural analysis of collagen fibril diameter distribution in cleft lip

Khan, Mohammad Faisal Jamal; Little, Julian; Nag, Tapas Chandra; Mossey, Peter; Autelitano, Luca; Meazzini, Maria Costanza; Merajuddin, Ahmed; Singh, Anirudh; Rubini, Michele

doi:10.1111/odi.12962

Cited by 4 publications

(2 citation statements)

References 48 publications

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“…Among environmental factors, tobacco smoking has been found to influence facial morphology (Xuan et al, 2016), and is reported to be the most consistent and strongest risk factor for OFCs (Raut et al, 2019). Such perturbation of the early life environment affects developmental programming in the embryo, with sustained changes potentially detectable in tissues from medial nasal and maxillary sides of the upper lip in cases with nonsyndromic cleft lip with or without cleft palate (nsCL/P) as observed by our group in recent studies (Khan, Little, Abelli, et al, 2018;Khan, Little, Mossey, Steegers-Theunissen, Autelitano, et al, 2018;Khan, Little, Aleotti, et al, 2019;Khan, Little, Nag, et al, 2019).…”

Section: Introductionsupporting

confidence: 58%

MTHFR promoter methylation might mitigate the effect of smoking at the level of LINE‐1 in cleft lip tissues: A preliminary study

Khan

Little

Mossey

et al. 2021

Birth Defects Research

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Background: The medial and maxillary aspects of the upper lip originate at separate embryonic stages and therefore may experience different maternal exposure patterns which may affect methylation. Based on this hypothesis, we investigated the level of methylation of the methylene tetrahydrofolate reductase promoter gene (mMTHFR) in tissues from cleft lip, and mMTHFR levels by MTHFR c.677C > T genotype. We further investigated whether mMTHFR mitigates the effect of smoking on long interspersed nuclear element (LINE-1) methylation in these tissues.Methods: DNA extracted from medial and lateral tissues of 26 infants with nonsyndromic cleft lip with or without cleft palate (nsCL/P) was bisulfite converted and mMTHFR was measured on a pyrosequenser. LINE-1 methylation and MTHFR c.677C > T genotype data were obtained in our previous study.Results: There was no substantial difference in mMTHFR (p = .733) and LINE-1 (p = .148) between the two tissues. mMTHFR was not influenced by MTHFR c.677C > T genotype, but there was suggestive evidence that the difference was larger among infants exposed to maternal smoking compared to nonexposed. LINE-1 methylation differences were significant (p = .025) in infants born to nonsmoking mothers, but this was not apparent (p = .872) in infants born to mothers who smoked. Our Pearson's correlation analysis suggested a weak inverse association between mMTHFR and LINE-1 (r = À.179, p = .381). Conclusion:Our preliminary observation of differences in patterns of mMTHFR levels in lip tissue suggests the interplay of gene and environment in the establishment of methylation in tissues at both sides of cleft lip. This requires investigation in a larger cohort, integrated with metabolic assessment.

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Section: Introductionsupporting

confidence: 58%

MTHFR promoter methylation might mitigate the effect of smoking at the level of LINE‐1 in cleft lip tissues: A preliminary study

Khan

Little

Mossey

et al. 2021

Birth Defects Research

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“…A common requirement for each hypothesis is the formation of a rigid ECM—while the hydraulic lifting hypothesis uses rigidity to push and expand palatal tissue, the other two hypotheses require a rigid ECM for use as a scaffold either for contraction or migration (Logan et al, 2019). Tensile strength of the ECM is positively correlated with the mass average diameter of collagen fibrils (Khan et al, 2019; Parry, Barnes, & Craig, 1978), indicating a key role for collagen properties. During palatal shelf elevation in rats, mesenchymal collagen type I is reinforced with covalent crosslinks within a fiber oriented in the rostral‐caudal plane (Hassell & Orkin, 1976).…”

Section: Extracellular Matrix and Cytoskeleton Dynamics In Orofacial mentioning

confidence: 99%

Cellular and developmental basis of orofacial clefts

Garland

Sun

et al. 2020

Birth Defects Research

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During craniofacial development, defective growth and fusion of the upper lip and/or palate can cause orofacial clefts (OFCs), which are among the most common structural birth defects in humans. The developmental basis of OFCs includes morphogenesis of the upper lip, primary palate, secondary palate, and other orofacial structures, each consisting of diverse cell types originating from all three germ layers: the ectoderm, mesoderm, and endoderm. Cranial neural crest cells and orofacial epithelial cells are two major cell types that interact with various cell lineages and play key roles in orofacial development. The cellular basis of OFCs involves defective execution in any one or several of the following processes: neural crest induction, epithelial‐mesenchymal transition, migration, proliferation, differentiation, apoptosis, primary cilia formation and its signaling transduction, epithelial seam formation and disappearance, periderm formation and peeling, convergence and extrusion of palatal epithelial seam cells, cell adhesion, cytoskeleton dynamics, and extracellular matrix function. The latest cellular and developmental findings may provide a basis for better understanding of the underlying genetic, epigenetic, environmental, and molecular mechanisms of OFCs.

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Structure of Soft Tissues in Congenital Unilateral Cleft Lip, Light and Electron Microscopic Observations

Zibrín,

Zábavníková,

Baňacká

et al. 2024

Folia Veterinaria

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Cleft lip (CL), palate (CP), or both (CLP) are one of the most common congenital abnormalities in humans, causing a heavy burden to the affected and their next of kin. We examined biopsy material from CL of seven children: Six 2 to 6 month-old babies and one 4-year-old boy. The samples were taken at the first surgical cleft lip repair. Light microscopy (LM) haematoxylin and eosin stained paraffin sections and toluidine blue stained 0.5–1 μm Durcupan sections from material processed for transmission electron microscopy (TEM), revealed abnormal “ragged” wavy muscle fibres in all seven children. The routine TEM confirmed our results LM; we found no other changes in the soft tissues in TEM; blood vessels of loose connective tissue and nerve fibres were normal. Therefore, we believe that myopathic changes in the cleft lip muscle fibres cannot be of neuronal origin.

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Ultrastructural analysis of collagen fibril diameter distribution in cleft lip

Cited by 4 publications

References 48 publications

MTHFR promoter methylation might mitigate the effect of smoking at the level of LINE‐1 in cleft lip tissues: A preliminary study

MTHFR promoter methylation might mitigate the effect of smoking at the level of LINE‐1 in cleft lip tissues: A preliminary study

Cellular and developmental basis of orofacial clefts

Structure of Soft Tissues in Congenital Unilateral Cleft Lip, Light and Electron Microscopic Observations

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