scholarly journals MED12 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Med12 Gene

scholarly journals Pathogenomics of Uterine Fibroids Development

2019 ◽  
Vol 20 (24) ◽  
pp. 6151 ◽  
Author(s):  
Vladislav S. Baranov ◽  
Natalia S. Osinovskaya ◽  
Maria I. Yarmolinskaya
Keyword(s):  
Molecular Mechanisms ◽  
Side Population ◽  
Chromosome Instability ◽  
Muscle Tension ◽  
Uterine Fibroids ◽  
Gene Mutations ◽  
Common Disease ◽  
Enhanced Expression ◽  
Med12 Gene ◽  
The Impact

We review recent studies dealing with the molecular genetics and basic results of omics analysis of uterine leiomyoma (LM)—a common benign muscle tumor of the uterus. Whole genome studies of LM resulted in the discovery of many new gene nets and biological pathways, including its origin, transcriptomic, and epigenetic profiles, as well as the impact of the inter-cell matrix in LM growth and involvement of microRNA in its regulation. New data on somatic cell mutations ultimately involved in the origin, distribution and growth of LM are reviewed. Putative identification of LM progenitor SC (stem cells) giving rise to maternal fibroid nodes and junctional zones provide a new clue for hypotheses on the pathogenomics of LM. The reviewed data are consistent with at least two different but probably intimately interacted molecular mechanisms of LM. One of them (the genetic hypothesis) is focused primarily on the MED12 gene mutations and suggests its onset in the side population of embryonic myoblasts of the female reproductive system, which later gave rise to multiple small and medium fibroids. The single and usually large-size fibroids are induced by predominantly epigenetic disorders in LM SC, provoked by enhanced expression of the HMGA2 gene caused by its hypomethylation and epigenetic deregulation enhanced by hypoxia, muscle tension, or chromosome instability/aberrations. The pathogenomics of both genetic and epigenetic programs of LM with many peculiarities at the beginning later became rather similar and partly overlapped due to the proximity of their gene nets and epigenetic landscape. Pathogenomic studies of LM open ways for elaboration of novel strategies of prevention and treatment of this common disease.

scholarly journals Lujan–Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia

2016 ◽  
Vol 9 ◽  
pp. CCRep.S41083 ◽  
Author(s):  
Abidullah Khan ◽  
Mohammad Humayun ◽  
Iqbal Haider ◽  
Maimoona Ayub
Keyword(s):  
Family History ◽  
English Language ◽  
Positive Family History ◽  
Acute Onset ◽  
Facial Dysmorphism ◽  
Body Habitus ◽  
Behavioral Issues ◽  
History Of ◽  
Hypernasal Speech ◽  
Med12 Gene

Background Lujan–Fryns syndrome (LFS) is an extremely rare, X-linked disorder, for which the full clinical spectrum is still unknown. Usually, it presents with neuropsychiatric problems such as learning disabilities and behavioral issues in a typical combination with marfanoid features. Often, there is a positive family history for the disorder. However, sporadic cases have also been reported in males. More interestingly, there is no case of LFS presenting with acute-onset dysphagia in the English language medical literature. Case Presentation A 17-year-old Pakistani mentally normal school boy was admitted for the workup of acute-onset dysphagia, hypernasal speech, and nasal regurgitation of liquids. He had no neuropsychiatric issues, and his family history was unremarkable. An obvious nasal twang, facial dysmorphism, and marfanoid body habitus were found on examination. The genetic tests revealed a pathogenic missense mutation in the MED12 gene on his X-chromosome. Conclusion LFS can present as acute-onset dysphagia and in the absence of any neuropsychiatric issues or positive family history of the syndrome.

scholarly journals Extracellular Matrix (ECM) Activates β-catenin Signaling in Uterine Fibroids

Reproduction ◽  
2018 ◽  
Author(s):  
Yi-An Ko ◽  
Muhammad Jamaluddin ◽  
Mariam Adebayo ◽  
Preety Bajwa ◽  
Rodney Scott ◽  
...  
Keyword(s):  
Wnt Signaling ◽  
Wnt Pathway ◽  
Wnt Signaling Pathway ◽  
Uterine Fibroids ◽  
Wild Type ◽  
Mutational Status ◽  
The Status ◽  
Wnt Inhibitor ◽  
Med12 Gene ◽  
New Treatments

κΩΨ¥–€™±≈‰ greater than > less than Recent studies showed that genetic aberrations in the MED12 gene, probably through the canonical WNT/β-catenin pathway, lead to the pathogenesis of uterine fibroids. However, a comprehensive analysis of the WNT pathway in MED12-mutated and MED12-wild type fibroids has not been performed. The objective of this study was to determine the status of the WNT pathway in human fibroids. We performed Sanger sequencing to define the MED12 mutational status of fibroids and normal myometrium samples. qPCR arrays were carried out to determine the status of the WNT signaling pathway in MED12-mutated and MED12-wild type fibroids. Liquid chromatography-mass spectrometry (LC-MS), western blotting, and immunohistochemistry were used to monitor the expression of β-catenin. We showed that β-catenin expression was increased in fibroids compared to the adjacent myometrium samples. However, β-catenin expression showed no correlation with MED12 mutation status. Of all the WNT signaling components, WNT inhibitors showed the greatest differences in expression between fibroids and controls. WIF1, a WNT inhibitor, was identified as the most significantly upregulated gene in fibroids. We cultured primary fibroid cells on hydrogels of known stiffness to decipher the influence of biomechanical cues on β-catenin expression and revealed increased levels of β-catenin when cells were cultured on a stiffer surface. In conclusion, our data showed that β-catenin expression in fibroids occurs independently of MED12 mutations. Biomechanical changes upregulate β-catenin expression in fibroids, providing an attractive avenue for developing new treatments for this disease.

scholarly journals Silencing Med12 Gene Reduces Proliferation of Human Leiomyoma Cells Mediated via Wnt/β-Catenin Signaling Pathway

Endocrinology ◽  
2016 ◽  
pp. en.2016-1097 ◽  
Author(s):  
Ayman Al-Hendy ◽  
Archana Laknaur ◽  
Michael P. Diamond ◽  
Nahed Ismail ◽  
Thomas G. Boyer ◽  
...  
Keyword(s):  
Signaling Pathway ◽  
Med12 Gene

Autism, psychosis and marfan: The Lujan–Fryns syndrome

2017 ◽  
Vol 41 (S1) ◽  
pp. S448-S448
Author(s):  
G. Montero ◽  
I. Alberdi
Keyword(s):  
Autism Spectrum ◽  
Emotional Instability ◽  
Obsessive Compulsive ◽  
Psychiatric Admission ◽  
Compulsive Disorder ◽  
Rapid Control ◽  
Autistic Behaviour ◽  
Competing Interest ◽  
Med12 Gene ◽  
Psychiatric Manifestations

ObjectivesWe report the case of a 19-year-old male who was brought to our psychiatry consultation by his family for behavioural disorders and poor school performance of years of evolution.ResultsWe found ourselves before a tall, thin, childish, suspicious, perplex, inhibited and minimizer patient, so we sent him to our hospital for psychiatric admission, where he showed a flowery delirium of mystic, religious and megalomaniac content; complex visual and auditory hallucinatory phenomena; and where he was diagnosed of acute polymorphic psychotic disorder and autism spectrum disorder with marfanoid habit. Therefore, we suspected a Lujan–Fryns syndrome and requested genetic confirmation. Risperidone was prescribed as solo treatment, with a rapid control of the symptoms.ConclusionsLujan–Fryns syndrome, first described in 1984, corresponds to a sequence mutation in exon 22 of med12 gene of chromosome X. It is hard to suspect and diagnose before puberty. Those affected have marfanoid habit and also other psychiatric manifestations such as autistic behaviour, mild-moderate mental retardation (there are some reported cases with normal intelligence), language disorders, emotional instability, aggressiveness, hyperactivity, shyness which can be extreme, obsessive-compulsive disorder, isolation, delusions, visual and auditory hallucinations, and there are cases that describe schizophrenia. Its diagnosis requires adequate physical and psychopathological examination, and it is established with clinical suspicion and genetic confirmation. There are very few cases described and there is little bibliography available about Lujan–Fryns syndrome [1].Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals Novel MED12 gene somatic mutations in women from the Southern United States with symptomatic uterine fibroids

2014 ◽  
Vol 290 (2) ◽  
pp. 505-511 ◽  
Author(s):  
Sunil K. Halder ◽  
Archana Laknaur ◽  
Jessica Miller ◽  
Lawrence C. Layman ◽  
Michael Diamond ◽  
...  
Keyword(s):  
United States ◽  
Somatic Mutations ◽  
Uterine Fibroids ◽  
Southern United States ◽  
Med12 Gene

scholarly journals The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

2007 ◽  
Vol 44 (7) ◽  
pp. 472-477 ◽  
Author(s):  
C. E Schwartz ◽  
P. S Tarpey ◽  
H. A Lubs ◽  
A. Verloes ◽  
M. M May ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Med12 Gene

The study of MED12 gene mutations in uterine leiomyomas from Iranian patients

Tumor Biology ◽  
2015 ◽  
Vol 37 (2) ◽  
pp. 1567-1571 ◽  
Author(s):  
Samaneh Sadeghi ◽  
Mandana Khorrami ◽  
Mona Amin-Beidokhti ◽  
Maryam Abbasi ◽  
Zeeba Kamalian ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Uterine Leiomyomas ◽  
Med12 Gene ◽  
Iranian Patients

A novel variant in MED12 gene: Further delineation of phenotype

2017 ◽  
Vol 173 (8) ◽  
pp. 2257-2260 ◽  
Author(s):  
Dhanya L. Narayanan ◽  
Shubha R. Phadke
Keyword(s):  
Novel Variant ◽  
Med12 Gene
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