Epigenetic modifications of primordial reproductive tract: A common etiologic pathway for Mayer-Rokitansky-Kuster-Hauser Syndrome and endometriosis?

Maniglio, Paolo; Ricciardi, Enzo; Laganà, Antonio Simone; Triolo, Onofrio; Caserta, Donatella

doi:10.1016/j.mehy.2016.02.015

Cited by 33 publications

(17 citation statements)

References 13 publications

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“…As it widely accepted, the extension and localization of the disease can play a pivotal role in the arising and exacerbating of chronic pelvic pain [ 4 , 69 ] and related decrease in quality of life [ 70 ]. In addition, accumulating evidence suggests that the interaction between immune system and endometriotic cells may cause a breakdown of the peritoneal immune surveillance [ 71 , 72 ], resulting in a diminished apoptosis of endometriotic cells [ 73 , 74 ] and disturbance of epigenetic expression of several genes of paramount importance for the progression of the disease [ 75 , 76 ].…”

Section: Resultsmentioning

confidence: 99%

Full-Thickness Excision versus Shaving by Laparoscopy for Intestinal Deep Infiltrating Endometriosis: Rationale and Potential Treatment Options

Laganà

Vitale

Trovato

et al. 2016

BioMed Research International

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121

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Endometriosis is defined as the presence of endometrial mucosa (glands and stroma) abnormally implanted in locations other than the uterine cavity. Deep infiltrating endometriosis (DIE) is considered the most aggressive presentation of the disease, penetrating more than 5 mm in affected tissues, and it is reported in approximately 20% of all women with endometriosis. DIE can cause a complete distortion of the pelvic anatomy and it mainly involves uterosacral ligaments, bladder, rectovaginal septum, rectum, and rectosigmoid colon. This review describes the state of the art in laparoscopic approach for DIE with a special interest in intestinal involvement, according to recent literature findings. Our attention has been focused particularly on full-thickness excision versus shaving technique in deep endometriosis intestinal involvement. Particularly, the aim of this paper is clarifying from the clinical and methodological points of view the best surgical treatment of deep intestinal endometriosis, since there is no standard of care in the literature and in different surgical settings. Indeed, this review tries to suggest when it is advisable to manage the full-thickness excision or the shaving technique, also analyzing perioperative management, main complications, and surgical outcomes.

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Section: Resultsmentioning

confidence: 99%

Full-Thickness Excision versus Shaving by Laparoscopy for Intestinal Deep Infiltrating Endometriosis: Rationale and Potential Treatment Options

Laganà

Vitale

Trovato

et al. 2016

BioMed Research International

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121

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“…Several studies of complex diseases have suggested that the discordant phenotype observed in monozygotic twins may be due to differences in gene expression in response to environmental and stochastic factors, in particular, epigenetic mechanisms. Based on this evidence, it has been hypothesized that epigenetic alterations during the development of the Müllerian reproductive tract may lead to the defective organogenesis observed in MRKH syndrome (92). The role of methylation in MRKH pathogenesis was confirmed by Rall et al, who used a combined transcriptome-methylome approach to demonstrate that downregulation of estrogen receptors or overexpression of certain HOXA genes may lead to developmental defects of the female reproductive tract, thus uncovering an additional pathomechanism underlying MRKH syndrome (93).…”

Section: Other Candidate Genes and Mechanismsmentioning

confidence: 99%

Genetics of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome

et al. 2016

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Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, also referred to as Müllerian agenesis, is the second most common cause of primary amenorrhea. It is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in otherwise phenotypically normal 46,XX females. MRKH syndrome has an incidence of about 1 in 4,500–5,000 newborn females and it is generally divided into two subtypes: MRKH type 1, in which only the upper vagina, cervix and the uterus are affected, and MRKH type 2, which is associated with additional malformations generally affecting the renal and skeletal systems, and also includes MURCS (MÜllerian Renal Cervical Somite) characterized by cervico‐thoracic defects. MRKH syndrome is mainly sporadic; however, familial cases have been described indicating that, at least in a subset of patients, MRKH may be an inherited disorder. The syndrome appears to demonstrate an autosomal dominant inheritance pattern, with incomplete penetrance and variable expressivity. The etiology of MRKH syndrome is still largely unknown, probably because of its intrinsic heterogeneity. Several candidate causative genes have been investigated, but to date only WNT4 has been associated with MRKH with hyperandrogenism. This review summarizes and discusses the clinical features and details progress to date in understanding the genetics of MRKH syndrome.

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“…Furthermore, endometriosis symptoms are often associated with a significant impairment in psychological wellbeing [15,16], that has also a substantial impact on the quality of life [17,18]. Several different theories have been developed in order to justify the etiopathology of endometriosis; although the theory of retrograde menstruation [19,20], developed by Sampson, was widely accepted several years ago, to date, accumulating evidence suggests a key role of genetics, epigenetics, and immune mechanisms for the onset and progression of the disease [21][22][23][24].…”

Section: Introductionmentioning

confidence: 99%

Ion Channels in The Pathogenesis of Endometriosis: A Cutting-Edge Point of View

Riemma

Laganà

Schiattarella

et al. 2020

IJMS

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Background: Ion channels play a crucial role in many physiological processes. Several subtypes are expressed in the endometrium. Endometriosis is strictly correlated to estrogens and it is evident that expression and functionality of different ion channels are estrogen-dependent, fluctuating between the menstrual phases. However, their relationship with endometriosis is still unclear. Objective: To summarize the available literature data about the role of ion channels in the etiopathogenesis of endometriosis. Methods: A search on PubMed and Medline databases was performed from inception to November 2019. Results: Cystic fibrosis transmembrane conductance regulator (CFTR), transient receptor potentials (TRPs), aquaporins (AQPs), and chloride channel (ClC)-3 expression and activity were analyzed. CFTR expression changed during the menstrual phases and was enhanced in endometriosis samples; its overexpression promoted endometrial cell proliferation, migration, and invasion throughout nuclear factor kappa-light-chain-enhancer of activated B cells-urokinase plasminogen activator receptor (NFκB-uPAR) signaling pathway. No connection between TRPs and the pathogenesis of endometriosis was found. AQP5 activity was estrogen-increased and, through phosphatidylinositol-3-kinase and protein kinase B (PI3K/AKT), helped in vivo implantation of ectopic endometrium. In vitro, AQP9 participated in extracellular signal-regulated kinases/p38 mitogen-activated protein kinase (ERK/p38 MAPK) pathway and helped migration and invasion stimulating matrix metalloproteinase (MMP)2 and MMP9. ClC-3 was also overexpressed in ectopic endometrium and upregulated MMP9. Conclusion: Available evidence suggests a pivotal role of CFTR, AQPs, and ClC-3 in endometriosis etiopathogenesis. However, data obtained are not sufficient to establish a direct role of ion channels in the etiology of the disease. Further studies are needed to clarify this relationship.

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Epigenetic modifications of primordial reproductive tract: A common etiologic pathway for Mayer-Rokitansky-Kuster-Hauser Syndrome and endometriosis?

Cited by 33 publications

References 13 publications

Full-Thickness Excision versus Shaving by Laparoscopy for Intestinal Deep Infiltrating Endometriosis: Rationale and Potential Treatment Options

Full-Thickness Excision versus Shaving by Laparoscopy for Intestinal Deep Infiltrating Endometriosis: Rationale and Potential Treatment Options

Genetics of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome

Ion Channels in The Pathogenesis of Endometriosis: A Cutting-Edge Point of View

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