Common Genetic Variants Link the Abnormalities in the Gut-Brain Axis in Prematurity and Autism

Sajdel-Sulkowska, Elizabeth M.; Makowska‐Zubrycka, Monika; Czarzasta, Katarzyna; Kasarełło, Kaja; Aggarwal, Vishal R; Bialy, Michał; Szczepañska‐Sadowska, Ewa; Cudnoch‐Jędrzejewska, Agnieszka

doi:10.1007/s12311-018-0970-1

Cited by 24 publications

(15 citation statements)

References 129 publications

(182 reference statements)

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“…For instance, we have recently uncovered that an SNP in the gene for PSD95 is associated with poorer outcome for preterm born infants ( 166 ), mentioned above, as genetic variation in polymorphisms for PSD95 is a known risk factor for ASD ( 242 ). Common genetic variants and methylation patterns have been revealed in focused studies of people with ASD, with and without prior history of preterm birth ( 243 ). Changes uncovered by these targeted studies include tyrosine-protein kinase Met ( MET ), Neuregulin 3 ( NRG3 ), and serotonin transporter ( SLC6A4 ).…”

Section: Links Between Eop and Neurodevelopmental Diseasesmentioning

confidence: 99%

Cortical Gray Matter Injury in Encephalopathy of Prematurity: Link to Neurodevelopmental Disorders

2020

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Preterm-born infants frequently suffer from an array of neurological damage, collectively termed encephalopathy of prematurity (EoP). They also have an increased risk of presenting with a neurodevelopmental disorder (e.g., autism spectrum disorder; attention deficit hyperactivity disorder) later in life. It is hypothesized that it is the gray matter injury to the cortex, in addition to white matter injury, in EoP that is responsible for the altered behavior and cognition in these individuals. However, although it is established that gray matter injury occurs in infants following preterm birth, the exact nature of these changes is not fully elucidated. Here we will review the current state of knowledge in this field, amalgamating data from both clinical and preclinical studies. This will be placed in the context of normal processes of developmental biology and the known pathophysiology of neurodevelopmental disorders. Novel diagnostic and therapeutic tactics required integration of this information so that in the future we can combine mechanism-based approaches with patient stratification to ensure the most efficacious and cost-effective clinical practice.

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Section: Links Between Eop and Neurodevelopmental Diseasesmentioning

confidence: 99%

Cortical Gray Matter Injury in Encephalopathy of Prematurity: Link to Neurodevelopmental Disorders

2020

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“…There also seem to be a window early in life with increased gut‐brain translocation before the permeability of the barriers decreases. Interestingly, increased permeability has been reported in infants born preterm and children with ASD …”

Section: The Gut‐brain Axismentioning

confidence: 99%

Microbiome programming of brain development: implications for neurodevelopmental disorders

Forssberg

2019

Develop Med Child Neuro

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ASDAutism spectrum disorderDuring the last decade, research on germ-free mice has discovered that the gut microbiome (i.e. the normal bacteria colonizing the gastrointestinal tract) can programme brain function and behaviour during early development. At the same time a growing number of clinical studies have shown altered gut microflora in children with autism spectrum disorder (ASD), in combination with altered bacterial metabolites and inflammatory cytokines being part of the gut-brain axis. This review covers the concept of the microbiome; how it is established during childhood; how it is affected by malnutrition; how it can programme the development of the brain through epigenetic mechanisms; which pathways are used from the gut to the brain; and assesses findings that suggest the gut microbiome may be involved in ASD and other neurodevelopmental disorders. This is a new research field with a number of exciting, but so far fragmented, findings indicating the important role of the normal microbiome in shaping the brain. Research also suggests that disruptions of the microbiome may be involved in the aetiology of neurodevelopmental disorders.

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“…We combined linkage analysis, using P. maniculatus and P. polionotus, the polymorphisms between the two species, and a candidate gene approach to link the Dominant spot trait with Sox10. Mutations in Sox10 are known to cause belly spotting and megacolon in Mus and Waardenburg syndrome, types 2E and 4C in humans (38)(39)(40). Waardenburg syndrome is genetically heterogeneous and results from mutations in Sox10, Pax3, Mitf, Snai2, Ednrb, and Edn3, as well as many cases with unidentified mutations (41).…”

Section: Discussionmentioning

confidence: 99%

Using Genomic Resources for Linkage Analysis in Peromyscus with an Application for Characterizing Dominant Spot

Shang

Horovitz

McKenzie

et al. 2020

Preprint

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Background: Peromyscus are the most common mammalian species in North America and are widely used in both laboratory and field studies. The deer mouse, P. maniculatus and the old-field mouse, P. polionotus, are closely related and can generate viable and fertile hybrid offspring. The ability to generate hybrid offspring, coupled with developing genomic resources, enables researchers to conduct linkage analysis studies to identify genomic loci associated with specific traits. Results: We used available genomic data to identify DNA polymorphisms between P. maniculatus and P. polionotus and used the polymorphic data to identify the range of genetic complexity that underlies physiological and behavioral differences between the species, including cholesterol metabolism and genes associated with autism. In addition, we used the polymorphic data to conduct a candidate gene linkage analysis for the Dominant spot trait and determined that Dominant spot is linked to a region of chromosome 20 that contains a strong candidate gene, Sox10. During the linkage analysis, we found that the spot size varied quantitively in affected Peromyscus based on genetic background. Conclusions: The expanding genomic resources for Peromyscus facilitate their use in linkage analysis studies, enabling the identification of loci associated with specific traits. More specifically, we have linked a coat color spotting phenotype, Dominant spot, with Sox10, a member the neural crest gene regulatory network, and that there are likely two genetic modifiers that interact with Dominant spot. These results establish Peromyscus as a model system for identifying new alleles of the neural crest gene regulatory network.

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Common Genetic Variants Link the Abnormalities in the Gut-Brain Axis in Prematurity and Autism

Cited by 24 publications

References 129 publications

Cortical Gray Matter Injury in Encephalopathy of Prematurity: Link to Neurodevelopmental Disorders

Cortical Gray Matter Injury in Encephalopathy of Prematurity: Link to Neurodevelopmental Disorders

Microbiome programming of brain development: implications for neurodevelopmental disorders

Using Genomic Resources for Linkage Analysis in Peromyscus with an Application for Characterizing Dominant Spot

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