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Innovative tools for early diagnosis

In recent years, the metabolomics has established itself as a powerful tool for early detection of signs of type 2 diabetes. Recent studies have shown that by analyzing the metabolomic profile of an individual, it is possible to identify alterations in the levels of branched-chain amino acids, lipids And fatty acids that precede the onset of the disease. Researchers have discovered that individuals with elevated levels of leucine, isoleucine, and valine have an increased risk of developing diabetes years before clinical diagnosis. These findings could revolutionize current diagnostic approaches, allowing for more timely and personalized interventions.. 

Personalization of therapy

Metabolomics is also helping to improve the effectiveness of treatments for type 2 diabetes. Thanks to the analysis of the metabolites in the blood, it is possible to understand how a patient responds to specific hypoglycemic drugs or dietary modifications. This approach has led to the development of the so-called personalized medicine, in which therapy is tailored based on the individual patient’s metabolomic characteristics. For example, some people may benefit more from a diet rich in healthy fats, while others respond better to a low-carb diet. Metabolomics allows these distinctions to be made more precisely than traditional methods.. 

Towards prevention and long-term well-being

Beyond diagnosis and treatment, metabolomics opens up new possibilities for diabetes prevention. Through continuous monitoring of the metabolomic profiles, it is possible to evaluate the effectiveness of lifestyle interventions, such as physical exercise or dietary changes. Some studies show that by monitoring the evolution of metabolites over time, it is possible to prevent diabetes complications and maintain a metabolomic balance This integrated approach, which combines science, technology, and health, represents a great opportunity to improve the quality of life of people at risk or already affected by the disease.. 

For further information: 

• Guasch-Ferré M, Hruby A, Toledo E, Clish CB, Martínez-González MA, Salas-Salvadó J, Hu FB. Metabolomics in Prediabetes and Diabetes: A Systematic Review and Meta-analysis. Diabetes Care. 2016 May;39(5):833-46. doi: 10.2337/dc15-2251 (a systematic review analyzing numerous studies of metabolomics applied to diabetes, useful to understand the potential of this approach in prevention and management of the disease).
• Guasch-Ferré M, Hruby A, Toledo E, Clish CB, Martínez-González MA, Salas-Salvadó J, Hu FB. Metabolomics in Prediabetes and Diabetes: A Systematic Review and Meta-analysis. Diabetes Care. 2016 May;39(5):833-46. doi: 10.2337/dc15-2251 (a systematic review analyzing numerous studies of metabolomics applied to diabetes, useful to understand the potential of this approach in prevention and management of the disease).

The potential of metabolomics

Metabolomics It is a scientific discipline that studies the metabolites, the small molecules produced by biological processes. These compounds offer a faithful image of the physiological state of an organism, revealing important diagnostic information and therapeutic. In recent years, this science has assumed a fundamental role in fields such as personalized medicine, early diagnosis of diseases and monitoring the effectiveness of treatments. Thanks to its ability to precisely analyze a patient’s biochemical profile, metabolomics is considered a key tool for discovering biomarkers useful in the fight against complex diseases such as tumors and neurodegenerative diseases.

Artificial intelligence in biomedical research

The integration of Artificial Intelligence (AI) in metabolomics marked a turning point. Algorithms of Machine Learning are now able to analyze large amounts of metabolic data, recognize hidden patterns and build predictive models useful in the diagnosis and classification of diseases. Techniques such as Random Forest, Support Vector Machine And neural networks They are used to select the most relevant information from huge datasets. This synergy between AI and metabolomics has accelerated the discovery of biomarkers in many diseases, including breast cancer, Alzheimer, diabetes And COVID-19, with potential applications across precision medicine.

A growing scientific community

From 2017 to 2022 there has been a rapid growth in the number of scientific publications on the topic, with United States, China And Germany among the major contributors. Major universities, such as the University of California system And Harvard, and reference magazines such as Metabolites And Scientific Reports, have contributed significantly to the development of the sector. Bibliometric analysis has identified recurring keywords such as “identification,” “diagnosis,” and “mass spectrometry,” highlighting the global interest in the use of AI in metabolomics. Future prospects point toward the integration of “multi-omics” data and the development of Explainable AI, capable of providing results that can also be interpreted by clinicians. This new approach promises to radically transform biomedical research, improving understanding of molecular mechanisms of diseases and guiding new therapeutic strategies.

For further information: Kopeć KK, Cannas F, Piras C, Spada M, Noto A, Atzori L, Fanos V. Unlocking the secrets of metabolomics with Artificial Intelligence: a comprehensive literature review. J Pediatr Neonat Individual Med. 2024;13(1):e130105. doi: 10.7363/130105.

Metabolomics applied to depression

There metabolomics it is a science that studies the metabolites, or small molecules present in our body that reflect our state of health. These metabolites change in response to disease, stress, or diet. In depressionMetabolomics allows us to analyze how the body reacts at a chemical level, opening new avenues to better understand the disease. Recent studies have identified specific alterations in the metabolites of depressed people, suggesting that depression is not just a problem of the mind, but also involves the metabolism of the body.

Biomarkers of depression

Thanks to metabolomics, researchers are looking for biomarkers, that is, signals in the blood or urine that may indicate the presence of depression. For example, it has been seen that some substances linked tocellular energy or to the regulation of thehumor They are often unbalanced in depressed subjects. This approach can help make more precise diagnoses and choose more targeted treatments. Furthermore, we study how these molecules change with treatments, so as to predict which therapies will be most effective for each patient.

Towards a more personalized care

Metabolomics opens the door to personalized medicine, where treatments are tailored to each person’s chemical profile. This is particularly useful in depression, which can present itself in many different ways. Some studies have found that there are distinct metabolic profiles for different types of depression, such as that related to lack of energy or the one with more symptoms anxious. Knowing these differences can improve the effectiveness of treatments and reduce side effects.

For further information:

• Bot M et al. Metabolomics Profile in Depression: A Pooled Analysis of 230 Metabolic Markers in 5283 Cases With Depression and 10,145 Controls. Biol Psychiatry. 2020;87(5):409-418. doi: 10.1016/j.biopsych.2019.08.016.
• Czysz AH et al. Can targeted metabolomics predict depression recovery? Results from the CO-MED trial. Transl Psychiatry. 2019;9(1):11. doi: 10.1038/s41398-018-0349-6.
• de Kluiver H et al. Metabolomics signatures of depression: the role of symptom profiles. Transl Psychiatry. 2023;13(1):198. doi: 10.1038/s41398-023-02484-5.
• Wang Y et al. Metabolomics on depression: A comparison of clinical and animal research. J Affect Disord. 2024;349:559-568. doi: 10.1016/j.jad.2024.01.053.

A link between the brain and the gut

In recent years, research on Parkinson’s disease have shown an increasing interest in involving theintestine and of the intestinal microbiota. A very recent study highlights how alterations in the composition of the microbiota can contribute to inflammation and neuronal damage, through thegut–brain axis. In particular, changes in gut bacteria influence the production of metabolites, which can cross the intestinal barrier and reach the brain, triggering an immune response.

Inflammation and neurodegeneration

One of the central aspects of Parkinson’s disease is the neuroinflammation, that is, a chronic immune response in the brain. The study shows that some microbial metabolites, such as short-chain fatty acids (SCFAs), can have both protective and harmful effects. If produced in an altered way, they can activate immune cells such as microglia, contributing to the death of dopaminergic neurons in the black substance, one of the areas most affected by the disease. This persistent inflammation is a key factor in the worsening of motor and cognitive symptoms.

New therapeutic perspectives

The results suggest that intervening on the intestinal microbiota could open new avenues for the prevention or treatment of Parkinson’s disease. Strategies such as the use of probiotics, prebiotics or a personalized diet could help restore a favorable microbial balance, thus reducing inflammation and disease progression. Understanding the interaction between the gut and the brain therefore offers an innovative approach, complementary to traditional therapies, and highlights the importance of intestinal health in neurological well-being.

For further information: Gao A, Lv J, Su Y. The Inflammatory Mechanism of Parkinsons Disease: Gut Microbiota Metabolites Affect the Development of the Disease Through the Gut-Brain Axis. Brain Sci. 2025 Feb 6;15(2):159. doi: 10.3390/brainsci15020159.

Metabolism as a common origin of diseases

The complex chronic diseases – like Alzheimer, depression, multiple sclerosis, type 1 diabetes, inflammatory bowel diseases And tumors – they share a multifactorial origin linked to the interaction between genetics, environment And microbiome. For years, research has focused on genomics, proteomics And microbiomics, but these disciplines alone cannot explain the evolution of the disease or predict its course. The global increase in these conditions, despite enormous scientific investments, requires a change of perspective based on the role of metabolism as a triggering factor, rather than as a simple consequence of pathological processes.

The decisive contribution of metabolomics

There metabolomics represents the missing key element to truly understanding these diseases. metabolomics study the metabolites, molecules that reflect the interaction between diet, microbiome And genetics, offering a direct image of the state of health. In particular, the Western-style diet (WSD), theobesity and metabolic disorders profoundly alter the balance of metabolites produced by the intestine, favoring underlying inflammatory conditions that can “prepare the ground” for the development of chronic diseases. metabolomics It therefore allows us to identify new biomarkers, to understand the disease progression and to identify therapeutic targets earlier and more effective.

From diet to microbiome: an integrated disease model

Innovative models connect the nutrients introduced with the diet, the effects on microbiome, the production of microbial metabolites and the changes observed in the metabolic profiles of patients. This approach confirms the critical role of microbiome as a regulator of inflammation and as a possible therapeutic target. The results suggest that only by integrating the metabolic perspective will it be possible to advance the precision medicine, improve prevention and identify new strategies against complex chronic diseases, overcoming the limitations of approaches based exclusively on genetics.

For further information: 

Tryptophan metabolism and inflammatory pathways

The tryptophan It is an essential amino acid with very limited reserves, easily subject to deficiency and metabolic deviation. Only a small part generates serotonin, while approximately 95% is directed towards the path of kynurenine, activated by enzymes IDO And TDO. When the immune system produces inflammatory cytokines, IDO increases its activity and accelerates the transformation of tryptophan, reducing its availability for serotonin synthesis and generating potentially harmful metabolites. Among these, a particularly critical role is played byacid quinoline, capable of activating the NMDA receptors and generate oxidative stress.

Quinolinic acid and neurodegeneration

The increase of thequinolinic acid It is detected in different conditions: depression, Parkinson, Alzheimer, ALS and cognitive disorders associated with HIV. In depressed patients, levels in the cerebrospinal fluid are higher and correlate with the severity of symptoms. In Parkinson’s disease, it contributes to the death of dopaminergic neurons; in Alzheimer’s disease, it is associated with inflammation, plaques And neurofibrillary tangles; in ALS it causes motor neuron damage and mitochondrial dysfunction. In HIV-positive patients, levels can increase up to twenty-fold, causing severe cognitive impairment. Its neurotoxicity results from excessive activation of NMDA receptors, the production of free radicals and from the alteration of the neuronal cytoskeleton.

Therapeutic perspectives

The evidence shows that the tryptophan dysregulation and excessive production of quinolinic acid contribute to inflammation, oxidative stress and loss of protective metabolites such as acid picolinic and acid kynurenic. For this reason, research aims to modulate the kynurenine pathway, reducing the flow towards toxic metabolites and promoting neuroprotective ones. IDO/TDO inhibitors and antioxidants such as glutathione, curcumin or epigallocatechin, and nutritional approaches that ensure adequate tryptophan levels and support antioxidant defenses. These strategies may help prevent brain degeneration, but long-term clinical studies are needed.

For further information: 

Friedman M. Analysis, Nutrition, and Health Benefits of Tryptophan. Int J Tryptophan Res. 2018 Sep 26;11:1178646918802282. doi: 10.1177/1178646918802282.

Hestad K, et al. The Role of Tryptophan Dysmetabolism and Quinolinic Acid in Depressive and Neurodegenerative Diseases. Biomolecules. 2022 Jul 18;12(7):998. doi: 10.3390/biom12070998.

OMahony SM, et al. Serotonin, tryptophan metabolism and the brain-gut-microbiome axis. Behav Brain Res. 2015 Jan 15;277:32-48. doi: 10.1016/j.bbr.2014.07.027.

Origins and production of butyric acid

The neurodegenerative diseases, like Alzheimer And Parkinson, also appear to be influenced by the intestine. The microbiota, that is, the set of microorganisms that populate our intestine, plays a fundamental role in communication with the brain through the microbiota-gut-brain axis. When this ecosystem is altered (dysbiosis), the production of metabolites beneficial to the body’s well-being also changes, promoting inflammation and contributing to the development of neurological disorders.

Role of butyric acid in the microbiome, cell signaling, and the immune system

In the colon, butyric acid supports the intestinal cell function, regulates the cellular differentiation, modulates inflammation and helps prevent microbiome imbalances. It acts as signaling molecule, activating receptors such as HCA2 And PPAR, fundamental for the fat metabolism and for processes that can influence the growth of tumor cells. It also plays a key role in regulation of immunity, promoting the action of the regulatory T lymphocytes and helps control chronic inflammation. Clinical studies show positive effects in diseases such as colitis, diabetes, and inflammatory bowel disorders.

Effects on the brain, metabolism, cardiovascular system and cancer

Research shows a link between butyric acid and brain health: can affect anxiety, stress and pathologies such as Alzheimer, Parkinson, autism And depression, thanks to its action on mitochondria, epigenetics And microbiome homeostasis. He is also involved in the energy metabolism, improving insulin sensitivity And weight control. In animal studies it reduces atherosclerotic lesions and may help regulate blood pressure. Our understanding of the underlying molecular mechanisms is likely to increase as the omics technologies, in particular the metabolomics. Since butyric acid is a byproduct of fiber fermentation, this may explain why the high-fiber diets They help protect against colorectal cancer, obesity, stroke, type 2 diabetes, and other diseases.

For further information: 

Borycka-Kiciak K, et al. Butyric acid – a well-known molecule revisited. Prz Gastroenterol. 2017;12(2):83-89. doi: 10.5114/pg.2017.68342.

Bourassa MW, et al. Butyrate, neuroepigenetics and the gut microbiome: Can a high fiber diet improve brain health? Neurosci Lett. 2016 Jun 20;625:56-63. doi: 10.1016/j.neulet.2016.02.009.

Morrison DJ, Preston T. Formation of short chain fatty acids by the gut microbiota and their impact on human metabolism. Gut Microbes. 2016 May 3;7(3):189-200. doi: 10.1080/19490976.2015.1134082.

Ríos-Covián D, et al. Intestinal Short Chain Fatty Acids and their Link with Diet and Human Health. Front Microbiol. 2016 Feb 17;7:185. doi: 10.3389/fmicb.2016.00185.

Silva YP, et al. The Role of Short-Chain Fatty Acids From Gut Microbiota in Gut-Brain Communication. Front Endocrinol (Lausanne). 2020 Jan 31;11:25. doi: 10.3389/fendo.2020.00025.

The role of the microbiota: a delicate balance

The neurodegenerative diseases, like Alzheimer And Parkinson, also appear to be influenced by the intestine. The microbiota, that is, the set of microorganisms that populate our intestine, plays a fundamental role in communication with the brain through the microbiota-gut-brain axis. When this ecosystem is altered (dysbiosis), the production of metabolites beneficial to the body’s well-being also changes, promoting inflammation and contributing to the development of neurological disorders.

Barriers Weakening: A Journey from the Gut to the Brain

There dysbiosis It can damage the intestinal barrier, making it more permeable and allowing toxic substances to enter the blood. Similarly, the blood-brain barrier can also weaken. This double weakening facilitates the passage of inflammatory molecules and microorganisms to the brain, activating immune cells and promoting immune-mediated processes. neuroinflammation, a key element in the progression of neurodegenerative diseases. Three pathways are involved: nervous, endocrine and immune, which together form a continuous communication system between the intestine and the brain.

New therapeutic perspectives: the microbiota as a target

Recent research suggests that modifying the microbiota could help slow or mitigate neurodegenerative diseases. Stool samples from individuals with Parkinson’s disease reveal that levels of short-chain fatty acids, namely acetate, butyrate and propionate, show a marked decrease.

Approaches such as probiotics, prebiotics, postbiotics, fecal microbiota transplantation, and dietary modifications are showing promising results. In particular, the butyrate It is considered a postbiotic with a broad therapeutic profile, contributing to the maintenance of the integrity of the intestinal epithelium and the blood-brain barrier, intestinal motility and transit, anti-inflammatory effects, and neuronal function. Furthermore, can reverse cognitive decline, thus improving neurodegenerative processes. 

Despite the ongoing challenges, these therapies represent a new frontier in the understanding and management of neurodegenerative diseases.

For further information: 

Nie T, You L, Tang F, Duan Y, Nepovimova E, Kuca K, Wu Q, Wei W. Microbiota-Gut-Brain Axis in Age-Related Neurodegenerative Diseases. Curr Neuropharmacol. 2025;23(5):524-546.