{"id":4349,"date":"2026-05-26T09:59:11","date_gmt":"2026-05-26T07:59:11","guid":{"rendered":"https:\/\/www.centrodinoferrari.com\/senza-categoria\/cmt2a-identificati-biomarcatori-misurabili-nel-sangue-per-monitorare-il-danno-ai-nervi-periferici\/"},"modified":"2026-06-26T12:35:37","modified_gmt":"2026-06-26T10:35:37","slug":"cmt2a-identificati-biomarcatori-misurabili-nel-sangue-per-monitorare-il-danno-ai-nervi-periferici","status":"publish","type":"post","link":"https:\/\/www.centrodinoferrari.com\/en\/news\/dal-centro\/cmt2a-identificati-biomarcatori-misurabili-nel-sangue-per-monitorare-il-danno-ai-nervi-periferici\/","title":{"rendered":"CMT2A: blood-based biomarkers identified to monitor peripheral nerve damage"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">A blood-measurable biomarker capable of detecting peripheral nerve damage in <strong>Charcot-Marie-Tooth disease type 2A (CMT2A)<\/strong>: this is the main discovery of a study just published in <em><a href=\"https:\/\/www.nature.com\/articles\/s41598-026-49537-5\">Scientific Reports<\/a><\/em>, conducted by researchers from the \u201cCentro Dino Ferrari\u201d of the University of Milan and the Policlinico di Milano, in collaboration with the IRCCS E. Medea of Bosisio Parini (Lecco). For the first time, a study systematically evaluates serum biomarkers in a cohort of patients affected by <strong>CMT2A<\/strong>, a rare hereditary peripheral neuropathy caused by mutations in the <strong>Mitofusin2 (MFN2)<\/strong> gene.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>CMT2A<\/strong> is a rare neuromuscular disease that causes a progressive degeneration of nerve fibers, with muscle weakness, loss of sensitivity, and walking difficulties. To date, there is no approved therapy, and until this study, there was a lack of objective tools to measure disease progression or evaluate the efficacy of new treatments.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The research, coordinated by <strong>Prof. Stefania Paola Corti<\/strong> and <strong>Dr. Elena Abati<\/strong> of the Neural Stem Cell Laboratory at the \u201cCentro Dino Ferrari,\u201d measured four candidate molecules in the blood of 15 patients affected by <strong>CMT2A<\/strong>, 10 healthy controls, and 16 patients affected by other neuromuscular diseases (<strong>Amyotrophic Lateral Sclerosis &#8211; ALS<\/strong> and <strong>Spinal Muscular Atrophy &#8211; SMA<\/strong> type 3). The same biomarkers were evaluated in a transgenic animal model of <strong>CMT2A<\/strong>, i.e., genetically modified to reproduce the human disease.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u201c<strong>Neurofilament light chain (NfL)<\/strong> was found to be elevated in the blood of patients with <strong>CMT2A<\/strong> compared to healthy controls, and this finding was also confirmed in the affected animals,\u201d explains <strong>Dr. Elena Abati<\/strong>, first author of the study. \u201cThe <strong>NfL<\/strong> levels in <strong>CMT2A<\/strong> patients were intermediate between those observed in patients affected by <strong>ALS<\/strong> and <strong>SMA3<\/strong>: this suggests that the biomarker may help distinguish <strong>CMT2A<\/strong> from clinically similar conditions with a simple blood draw.\u201d<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The study identified a second promising biomarker: <strong>FGF21 (Fibroblast Growth Factor 21)<\/strong>, a protein that increases when cells are subjected to mitochondrial stress\u2014that is, an alteration in the functioning of mitochondria, the cell&#8217;s \u201cenergy plants.\u201d This biomarker was also significantly elevated in patients with <strong>CMT2A<\/strong>. The data is consistent with the mechanism underlying the disease: <strong>CMT2A<\/strong> is, in fact, caused by mutations in the <strong>MFN2<\/strong> gene, which is fundamental for the proper functioning of mitochondria. Alterations of this gene compromise the fusion and transport of mitochondria within nerve cells, contributing to the progressive peripheral nerve damage typical of the disease.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u201cHaving validated blood biomarkers means being able to objectively measure the effect of new therapies\u2014including the gene therapy approaches we are developing\u2014without resorting to invasive procedures,\u201d emphasizes <strong>Dr. Federica Rizzo<\/strong>, co-author of the study. \u201cThis study is a fundamental step toward more effective and accessible clinical trials for patients with <strong>CMT2A<\/strong>.\u201d<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The study also describes three new variants of the <strong>MFN2<\/strong> gene (p.Ile88Val, p.Lys243Met, p.Leu733Pro) never before reported in literature, further expanding the knowledge of the genetic heterogeneity of <strong>CMT2A<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The research was made possible thanks to the central financial support of the <strong>Associazione Progetto Mitofusina 2 onlus<\/strong>, whose support was decisive in carrying forward this line of research. A fundamental contribution also came from the patients affiliated with <strong>ACMT-Rete<\/strong> (the Italian association for <strong>CMT<\/strong>), who participated in the study on a voluntary basis and after providing written informed consent, donating biological samples essential for the validation of the biomarkers.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n","protected":false},"excerpt":{"rendered":"<p>A blood-measurable biomarker capable of detecting peripheral nerve damage in Charcot-Marie-Tooth disease type 2A (CMT2A): this is the main discovery of a study just published in Scientific Reports, conducted by researchers from the \u201cCentro Dino Ferrari\u201d of the University of Milan and the Policlinico di Milano, in collaboration with the IRCCS E. Medea of Bosisio [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":4190,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"give_campaign_id":0,"footnotes":""},"categories":[262],"tags":[270,374,375,271,376,377,378],"class_list":["post-4349","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-dal-centro","tag-centro-dino-ferrari","tag-lotta-allalzheimer","tag-nuovi-studi-alzheimer","tag-ricerca-alzheimer","tag-studio-genetico-alzheimer","tag-terapia-alzheimer","tag-trattamento-alzheimer"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>CMT2A: blood-based biomarkers identified to monitor peripheral nerve damage - Centro Dino Ferrari<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.centrodinoferrari.com\/en\/news\/dal-centro\/cmt2a-identificati-biomarcatori-misurabili-nel-sangue-per-monitorare-il-danno-ai-nervi-periferici\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CMT2A: blood-based biomarkers identified to monitor peripheral nerve damage - Centro Dino Ferrari\" \/>\n<meta property=\"og:description\" content=\"A blood-measurable biomarker capable of detecting peripheral nerve damage in Charcot-Marie-Tooth disease type 2A (CMT2A): this is the main discovery of a study just published in Scientific Reports, conducted by researchers from the \u201cCentro Dino Ferrari\u201d of the University of Milan and the Policlinico di Milano, in collaboration with the IRCCS E. 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