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Disentangling multiple sclerosis phenotypes through Mendelian disorders: A network approach.

Gianmarco Bellucci1, Maria Chiara Buscarinu2, Roberta Reniè1

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This study reveals that multiple sclerosis (MS) shares genetic and biological pathways with rare Mendelian disorders. This finding aids in classifying MS subtypes and developing new therapies for MS and other diseases.

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Multiple sclerosisdrug repurposinggeneticsnetwork medicinephenotyperare diseases

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Area of Science:

  • Genetics
  • Immunology
  • Neurology
  • Pharmacology

Background:

  • Growing knowledge of multiple sclerosis (MS) pathophysiology necessitates improved phenotype descriptions linked to disease biology.
  • Complex diseases like MS may share underlying pathomechanisms with simpler, monogenic disorders, forming genetic and phenotypical continuums.

Purpose of the Study:

  • To develop a new framework for MS phenotyping by connecting it with Mendelian diseases.
  • To identify potential drug candidates specific to identified MS phenotypes.

Main Methods:

  • Enrichment testing of MS-associated genetic variants against Mendelian disorder genes.
  • Construction and analysis of an MS-Mendelian molecular network to identify enriched phenotypic subnetworks and biological processes.
  • Network-based drug screening to identify candidate therapeutics.

Main Results:

  • Significant enrichment of monogenic diseases was observed among MS-associated loci (p < 0.001).
  • An MS-Mendelian network involving 331 genes and 486 disorders was established, enriched in neurologic, immunologic, metabolic, and visual phenotypes.
  • A total of 503 drugs were prioritized, with 27 active across three phenotypic subnetworks and 140 active in pairs of subnetworks.

Conclusions:

  • The genetic basis of MS encompasses biological pathways shared with monogenic immune, neurologic, metabolic, and visual disorders.
  • These findings can guide future classifications of MS endophenotypes.
  • This research supports the development of novel therapeutic strategies for both MS and rare genetic diseases.