2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma

Mukesh Gautam, Renata Del Carratore, Benjamin Helmold, Alessandra Tessa, Oge Gozutok, Navdeep Chandel, Halil Idrisoglu, Paolo Bongioanni, Roberta Battini*, P. Hande Ozdinler

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Pathogenic variants in ALS2 have been detected mostly in juvenile cases of amyotrophic lateral sclerosis (ALS), affecting mainly children and teenagers. Patients with ALS2 mutations demonstrate early onset cortical involvement in ALS. Currently, there are no effective treatment options. There is an immense need to reveal the underlying causes of the disease and to identify potential biomarkers. To shed light onto the metabolomic events that are perturbed with respect to ALS2 mutations, we investigated the metabolites present in the serum and plasma of a three-year-old female patient (AO) harboring pathogenic variants in ALS2, together with her relatives, healthy male and female controls, as well as another two-year-old patient DH, who had mutations at different locations and domains of ALS2. Serum and plasma samples were analyzed with a quantitative metabolomic approach to reveal the identity of metabolites present in serum and plasma. This study not only shed light onto the perturbed cellular pathways, but also began to reveal the presence of a distinct set of key metabolites that are selectively present or absent with respect to ALS2 mutations, laying the foundation for utilizing metabolites as potential biomarkers for a subset of ALS.

Original languageEnglish (US)
Article number174
JournalMetabolites
Volume12
Issue number2
DOIs
StatePublished - Feb 2022

Keywords

  • Alsin
  • Biomarker
  • Metabolites
  • Mutation
  • Plasma
  • Serum

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology

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