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Gemma CONFERENCES

Table of Contents

International Human Microbiome Consortium (IHMC) 2024, June 22-25, Rome

Autism Spectrum Disorder (ASD) affects about 1 in 54 children in the U.S.A., with a significant increase since 1960. While improved awareness and clinical practices may explain some of this rise, they do not fully account for it. Research suggests a link between ASD and gut microbiota due to gastrointestinal issues in many affected children. Current studies are limited in understanding the mechanisms of ASD. The GEMMA study, supported by the European Commission, aims to follow at-risk infants (because they are siblings of autistic children) from birth to identify biomarkers for ASD development, involving both clinical trials and pre-clinical studies to explore microbiome associations and potential treatment responses.
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Short chain fatty acids (SCFAs) are key gut microbial metabolites produced through microbial fermentation of dietary fibers in the colon. SCFAs are crucial for regulating intestinal inflammation, maintaining of mucosal barrier and facilitating gut-brain-interaction, all processes implicated in ASD pathophysiology. The aim of the study was to identify potential metabolic patterns associated with the onset and progression of ASD by longitudinal analysis (6, 12, 18, 24, 36 months) of fecal SCFAs level in individuals at risk of developing autism. A significant difference in the longitudinal development of certain SCFA profiles was found between children with and without ASD. This difference was most notable in acetic acid, hexanoic acid, hydroxybutyric acid and valeric acid. These differences indicate a possible role of the gut microbiome in the onset and progression of ASD may be because of changing in microbial composition or in the microbial metabolic activity within the gut environment of children with ASD
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The aim of this study was to unravel the fecal metabolomic landscape of autism spectrum disorders (ASD) through a longitudinal metabolomic analysis. Fecal samples were longitudinally collected from 38 children with autism and 32 neurotypical controls at different time points: 6, 12, 18, 24 months. Metabolome was extracted by MetaboPrep GC kit and analyzed by Gas Chromatography Mass-Spectrometry using GCMS-2010SE. Data were analyzed by MetaboPredict software and the class separation at different time points was explored using the Partial Least Square Discriminant Analysis (PLS-DA). The main significant difference between the two groups emerged at 18 months. Over time, this difference undergoes a significant reduction in variability within the ASD group compared to the control group.
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European Society of Human Genetics (ESHG) Conference, Berlin, June 1–4, 2024

The aim of this study was to identify a distinctive metabolomic pattern of the gut microbiota of the ASD condition and then to understand the altered pathways for early diagnosis, prognosis and future treatement. To this purpose we analyzed the metabolome of fecal samples of 40 children with ASD and 32 neurotipical children. Statistical analyses demonstrated a good separation between the two groups and found the metabolites with the highest degree of training: lactose, maltitol, maltose, mannobiose, estradiol, cellobiose, ribose, arabinose, asparagine, gluconic acid. The pathways most involved were those of lactose degradation and lactose synthesis. These findings pave the way for potential therapeutic intervention targeting the gut microbiota.gy.

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Molecular network analysis of the cross-talk between genetics, brain gene activity and gut microbiota in autism spectrum disorder​

Autism Spectrum Disorders (ASD) may be influenced by the gut microbiota, but the connection between the gut and the brain is complex and requires different levels of analysis. In this study, we used network analysis to better understand how genes linked to ASD, brain function, and gut microbes are connected. We focused on genes altered by ASD-related genetic factors, brain gene activity, and the gut microbiota. The resulting gene network showed strong interconnections between gut and brain, highlighting microbial genes that affect the metabolism of amino acids important for neurotransmitter production. This supports the idea that the microbiome could influence brain function through metabolic pathways.
This study was presented at different conferences:

  • International Human Microbiome Consortium (IHMC) 2024, June 22-25, Rome; BBMRI conference
  • 09/07/2024 – Annual Meeting Strengthening BBMRI.it
  • International Scientific association for Probiotics and Prebiotics (ISAPP) annual meeting, July 9-11, 2024, Cork
  • European Pediatric Translational Research Infrastructure (EPTRI) Scientific Meeting, 18 and 19 of July, Bari, Italy
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