scholarly journals Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Katarzyna Ignasiak-Budzyńska ◽  
Mikołaj Danko ◽  
Janusz Książyk
Keyword(s):  
Smooth Muscle ◽  
Rare Disease ◽  
Clinical Characteristics ◽  
Urinary System ◽  
Intestinal Pseudoobstruction ◽  
Leading Role ◽  
Parental Nutrition ◽  
Intestinal Peristalsis ◽  
Muscle Gene ◽  
Hypoperistalsis Syndrome

MMIHS, also known as Berdon’s syndrome, is a rare disease that belongs to primary causes of CIPOS (chronic intestinal pseudoobstruction syndrome). Clinical characteristics of MMIHS are differential, but we come across the following classic symptoms: disorders of intestinal peristalsis, microcolon, and megacystis. In this article, we present a series of 4 patients with Berdon’s syndrome, in whom we managed to identify the genetic causes of MMIHS. All infants showed clinical features of bowel obstruction and dysfunction of the urinary system after birth. Two of them also manifested disorders from other systems. The prognosis for these patients is poor, but a constant betterment of management in MMIHS, in which the leading role plays TPN (total parental nutrition), causes improvement of patients’ survival.

scholarly journals Kruppel-like Factor 4 Abrogates Myocardin-induced Activation of Smooth Muscle Gene Expression

2005 ◽  
Vol 280 (10) ◽  
pp. 9719-9727 ◽  
Author(s):  
Yan Liu ◽  
Sanjay Sinha ◽  
Oliver G. McDonald ◽  
Yueting Shang ◽  
Mark H. Hoofnagle ◽  
...  
Keyword(s):  
Gene Expression ◽  
Smooth Muscle ◽  
Muscle Gene Expression ◽  
Muscle Gene

scholarly journals Investigation of Immune Microenvironment in Children with Langerhans Cell Histiocytosis

2020 ◽  
Author(s):  
Fuyong Zhang ◽  
Weihong Wang ◽  
Yunfang Zhen ◽  
Jin Dai ◽  
Lunqing Zhu ◽  
...  
Keyword(s):  
T Lymphocytes ◽  
Rare Disease ◽  
Treatment Option ◽  
Langerhans Cell Histiocytosis ◽  
Clinical Characteristics ◽  
Langerhans Cell ◽  
Immune Microenvironment ◽  
Tissue Samples ◽  
Cd8 T Lymphocytes ◽  
New Treatment

Abstract Background: Langerhans cell histiocytosis (LCH) is a rare disease that mainly occur in children. The aim of this investigation is to explore the immune microenvironment of LCH and feasibility of immunotherapy for children with LCH. Methods: Tissue samples were collected from 15 children with LCH and their clinical characteristics were recorded. The expressions of PD-1 ligand 1(PD-L1) and the presence of CD8 T lymphocytes were assessed by immunohistochemistry (IHC). Results: Of the total 15 patients, 8 of them were PD-L1 positive and it accounted for 53.33% and 9 of them were CD8 T lymphocytes positive and it accounted for 60%. There were 8 out of the 15 patients that were both PD-L1 positive and CD8 positive and they accounted for 53.33%.Conclusions: Our results showed that the expression of PD-L1 and presence of CD8 T lymphocytes occurred in the microenvironment of LCH. The findings indicated a possible new treatment option for LCH in children.

scholarly journals LIM-only protein, CRP2, switched on smooth muscle gene activity in adult cardiac myocytes

2006 ◽  
Vol 104 (1) ◽  
pp. 157-162 ◽  
Author(s):  
D. F. Chang ◽  
N. S. Belaguli ◽  
J. Chang ◽  
R. J. Schwartz
Keyword(s):  
Smooth Muscle ◽  
Cardiac Myocytes ◽  
Gene Activity ◽  
Adult Cardiac Myocytes ◽  
Muscle Gene

scholarly journals Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice

2017 ◽  
Vol 114 (13) ◽  
pp. E2739-E2747 ◽  
Author(s):  
Danny Halim ◽  
Michael P. Wilson ◽  
Daniel Oliver ◽  
Erwin Brosens ◽  
Joke B. G. M. Verheij ◽  
...  
Keyword(s):  
Smooth Muscle ◽  
Premature Termination ◽  
Premature Termination Codon ◽  
Homozygosity Mapping ◽  
Late Gestation ◽  
Termination Codon ◽  
Filamentous Actin ◽  
Smooth Muscle Contractility ◽  
Visceral Smooth Muscle ◽  
Hypoperistalsis Syndrome

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary bladder and defective intestinal motility. The genetic basis of MMIHS has been ascribed to spontaneous and autosomal dominant mutations in actin gamma 2 (ACTG2), a smooth muscle contractile gene. However, evidence suggesting a recessive origin of the disease also exists. Using combined homozygosity mapping and whole exome sequencing, a genetically isolated family was found to carry a premature termination codon in Leiomodin1 (LMOD1), a gene preferentially expressed in vascular and visceral smooth muscle cells. Parents heterozygous for the mutation exhibited no abnormalities, but a child homozygous for the premature termination codon displayed symptoms consistent with MMIHS. We used CRISPR-Cas9 (CRISPR-associated protein) genome editing of Lmod1 to generate a similar premature termination codon. Mice homozygous for the mutation showed loss of LMOD1 protein and pathology consistent with MMIHS, including late gestation expansion of the bladder, hydronephrosis, and rapid demise after parturition. Loss of LMOD1 resulted in a reduction of filamentous actin, elongated cytoskeletal dense bodies, and impaired intestinal smooth muscle contractility. These results define LMOD1 as a disease gene for MMIHS and suggest its role in establishing normal smooth muscle cytoskeletal–contractile coupling.

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