Mannose-Binding Lectin2 gene polymorphism in PANDAS patients

Çelik, Gonca; Tas, Dıdem Arslan; Tahiroğlu, Ayşegül Yolga; Erken, Eren; Şeydaoğlu, Gülşah; Avcı, Ayşe

doi:10.29399/npa.22811

Cited by 4 publications

(7 citation statements)

References 27 publications

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“…This might have an indirect impact on behavior due to the reduced production of various metabolites involved in brain functions. Further, exon variants of the MBL gene and altered levels of TNF-α increase the susceptibility of PANDAS [67,68]. The treatment of PANDAS syndrome is still not obvious and specified, however, there are several alternatives that show promising results.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Alterations in the Nervous System and Gut Microbiota after β-Hemolytic Streptococcus Group A Infection—Characteristics and Diagnostic Criteria of PANDAS Recognition

Baj

Sitarz

Forma

et al. 2020

IJMS

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The objective of this paper is to review and summarize conclusions from the available literature regarding Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS). The authors have independently reviewed articles from 1977 onwards, primarily focusing on the etiopathology, symptoms, differentiation between similar psychiatric conditions, immunological reactions, alterations in the nervous system and gut microbiota, genetics, and the available treatment for PANDAS. Recent research indicates that PANDAS patients show noticeable alterations within the structures of the central nervous system, including caudate, putamen, globus pallidus, and striatum, as well as bilateral and lentiform nuclei. Likewise, the presence of autoantibodies that interact with basal ganglia was observed in PANDAS patients. Several studies also suggest a relationship between the presence of obsessive-compulsive disorders like PANDAS and alterations to the gut microbiota. Further, genetic predispositions—including variations in the MBL gene and TNF-α—seem to be relevant regarding PANDAS syndrome. Even though the literature is still scarce, the authors have attempted to provide a thorough insight into the PANDAS syndrome, bearing in mind the diagnostic difficulties of this condition.

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Section: Discussionmentioning

confidence: 99%

“…It was stated that GAS show a high susceptibility to bind to MBL [182]. Any variant in exon 1 of the MBL2 gene increases the probability of PANDAS [67]. Interestingly, recurrent infections may be associated with the polymorphism of codon 54 of the MBL2 gene [183].…”

Section: Genetic Approach To Ocd Including Pandasmentioning

confidence: 99%

Alterations in the Nervous System and Gut Microbiota after β-Hemolytic Streptococcus Group A Infection—Characteristics and Diagnostic Criteria of PANDAS Recognition

Baj

Sitarz

Forma

et al. 2020

IJMS

View full text Add to dashboard Cite

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“…The children had a SNP in the mannose-binding lectin 2 gene (MBL2), which plays a role in the complement pathway, a component of the immune system. The T allele of this MBL2 SNP has been associated with significantly reduced MBL2 levels [ 19 ]. This correlates with a lower capacity to recognize foreign invaders (such as Streptococcus infections) and a higher risk for PANDAS (OR = 4.15) [ 19 ].…”

Section: Resultsmentioning

confidence: 99%

“…The T allele of this MBL2 SNP has been associated with significantly reduced MBL2 levels [ 19 ]. This correlates with a lower capacity to recognize foreign invaders (such as Streptococcus infections) and a higher risk for PANDAS (OR = 4.15) [ 19 ]. The abnormal immune response from these same SNPs has also been associated with brain autoimmune activity [ 20 ], reduced blood–brain barrier function [ 20 ], tics, and an increased risk of OCD symptoms [ 19 ].…”

Section: Resultsmentioning

confidence: 99%

“…This correlates with a lower capacity to recognize foreign invaders (such as Streptococcus infections) and a higher risk for PANDAS (OR = 4.15) [ 19 ]. The abnormal immune response from these same SNPs has also been associated with brain autoimmune activity [ 20 ], reduced blood–brain barrier function [ 20 ], tics, and an increased risk of OCD symptoms [ 19 ]. To help address this, a combination of lignite to help tighten the tight junctions of the gut [ 21 ], vitamin D [ 22 ], probiotics [ 23 ], and prebiotics [ 24 ] were added to the treatment protocol of JD1 and JD2.…”

Section: Resultsmentioning

confidence: 99%

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Genomics as a Clinical Decision Support Tool: Successful Proof of Concept for Improved ASD Outcomes

Way

Williams

Hausman-Cohen

et al. 2021

JPM

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Considerable evidence is emerging that Autism Spectrum Disorder (ASD) is most often triggered by a range of different genetic variants that interact with environmental factors such as exposures to toxicants and changes to the food supply. Up to 80% of genetic variations that contribute to ASD found to date are neither extremely rare nor classified as pathogenic. Rather, they are less common single nucleotide polymorphisms (SNPs), found in 1–15% or more of the population, that by themselves are not disease-causing. These genomic variants contribute to ASD by interacting with each other, along with nutritional and environmental factors. Examples of pathways affected or triggered include those related to brain inflammation, mitochondrial dysfunction, neuronal connectivity, synapse formation, impaired detoxification, methylation, and neurotransmitter-related effects. This article presents information on four case study patients that are part of a larger ongoing pilot study. A genomic clinical decision support (CDS) tool that specifically focuses on variants and pathways that have been associated with neurodevelopmental disorders was used in this pilot study to help develop a targeted, personalized prevention and intervention strategy for each child. In addition to an individual’s genetic makeup, each patient’s personal history, diet, and environmental factors were considered. The CDS tool also looked at genomic SNPs associated with secondary comorbid ASD conditions including attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, and pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections/pediatric acute-onset neuropsychiatric syndrome (PANDAS/PANS). The interpreted genomics tool helped the treating clinician identify and develop personalized, genomically targeted treatment plans. Utilization of this treatment approach was associated with significant improvements in socialization and verbal skills, academic milestones and intelligence quotient (IQ), and overall increased ability to function in these children, as measured by autism treatment evaluation checklist (ATEC) scores and parent interviews.

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Diagnostic Approach to Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections (PANDAS): A Narrative Review of Literature Data

et al. 2021

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Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) are clinical conditions characterized by the sudden onset of obsessive–compulsive disorder and/or tics, often accompanied by other behavioral symptoms in a group of children with streptococcal infection. PANDAS-related disorders, including pediatric acute-onset neuropsychiatric syndrome (PANS), childhood acute neuropsychiatric symptoms (CANS), and pediatric infection triggered autoimmune neuropsychiatric disorders (PITANDs), have also been described. Since first defined in 1998, PANDAS has been considered a controversial diagnosis. A comprehensive review of the literature was performed on PubMed and Scopus databases, searching for diagnostic criteria and diagnostic procedures of PANDAS and related disorders. We propose a test panel to support clinicians in the workout of PANDAS/PANS patients establishing an appropriate treatment. However, further studies are needed to improve our knowledge on these acute-onset neuropsychiatric conditions.

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Mannose-Binding Lectin2 gene polymorphism in PANDAS patients

Cited by 4 publications

References 27 publications

Alterations in the Nervous System and Gut Microbiota after β-Hemolytic Streptococcus Group A Infection—Characteristics and Diagnostic Criteria of PANDAS Recognition

Alterations in the Nervous System and Gut Microbiota after β-Hemolytic Streptococcus Group A Infection—Characteristics and Diagnostic Criteria of PANDAS Recognition

Genomics as a Clinical Decision Support Tool: Successful Proof of Concept for Improved ASD Outcomes

Diagnostic Approach to Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections (PANDAS): A Narrative Review of Literature Data

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