Related Experiment Video
Updated: May 3, 2026
07:37
An Adoptive Transfer Model of Rheumatoid Arthritis in Mice
Published on: June 6, 2025
1.5K
Subclinical inflammatory status in Rett syndrome
Alessio Cortelazzo1, Claudio De Felice2, Roberto Guerranti3
1Child Neuropsychiatry Unit, University Hospital Azienda Ospedaliera Universitaria Senese (AOUS), Viale M. Bracci 16, 53100 Siena, Italy ; Department of Medical Biotechnologies, University of Siena, Via A. Moro 2, 53100 Siena, Italy.
Mediators of Inflammation
|February 11, 2014
Summary
Rett syndrome (RTT) patients show elevated erythrocyte sedimentation rates, indicating subclinical inflammation during the "pseudo-autistic" phase. This chronic inflammatory status correlates with the MECP2 gene mutation
Area of Science:
- Neuroscience
- Biochemistry
- Genetics
Background:
- Developmental cognitive impairment may stem from inflammation.
- Rett syndrome (RTT), a neurodevelopmental disorder, is primarily caused by MECP2 gene mutations.
Purpose of the Study:
- Investigate the acute phase response (APR) in stage II RTT patients.
- Analyze plasma APR in relation to different MECP2 mutation types.
Main Methods:
- Utilized routine hematology/clinical chemistry and proteomic 2-DE/MALDI-TOF analyses.
- Examined four major MECP2 gene mutation types: R306C, T158M, R168X, and large deletions.
Main Results:
- Elevated erythrocyte sedimentation rate (ESR) was observed in RTT patients (33.0 mm/h vs. 8.0 mm/h).
- C-reactive protein levels remained unchanged.
- Proteomic analysis identified 17 proteins with altered levels, primarily APR proteins, immune system proteins, and metabolic proteins.
- The extent of protein changes correlated with MECP2 mutation severity.
Conclusions:
- Revealed a subclinical chronic inflammatory status in the "pseudo-autistic" phase of RTT.
- This inflammation is linked to the severity of the MECP2 gene mutation.
Related Concept Videos
01:22Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
1.3K
The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
1.3K
01:25Inflammatory Bowel Disease III: Crohn's Disease
35
Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
35
01:23Rheumatic Heart Disease I: Introduction
1.0K
Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
1.0K
01:12Chronic Inflammation: Introduction
41
Chronic inflammation is a prolonged, dysregulated immune response that persists for weeks to years when the inciting stimulus is difficult to eradicate or when self‑antigens drive ongoing reactivity. Morphologically, it is defined by mononuclear cell infiltration, progressive tissue destruction, and concurrent attempts at healing via angiogenesis and fibrosis. Compared with acute inflammation, edema is less prominent while cellular infiltration predominates; triggers include persistent...
41
01:20Inflammatory Bowel Disease II: Ulcerative Colitis
34
Ulcerative colitis is a chronic inflammatory disorder of the colon characterized by continuous mucosal inflammation that typically begins in the rectum and extends proximally in a uniform pattern. Its pathogenesis involves a complex interplay of genetic predisposition, immune dysregulation, and environmental influences. These factors converge to impair the colon’s epithelial defenses and promote an exaggerated inflammatory response against luminal contents.Breakdown of the Mucosal...
34
01:21Smooth Endoplasmic Reticulum
6.6K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
6.6K