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Peer-reviewedCC BY 4.0International Journal of Molecular Sciences

Identification of SOD1 Gene Variants in Mexican Patients with Amyotrophic Lateral Sclerosis

  • Carlos Alberto Gómez-Pérez1,2
  • Miguel Ángel Ramírez-García1
  • Elizabeth Ruiz-Sánchez3
  • Sandra Romero-Hidalgo4
  • Adriana Ochoa-Morales1
  • Aurelio Jara-Prado1
  • Marisela Méndez-Armenta5
  • Concepción Nava-Ruiz5
  • Petra Yescas-Gómez1
5 affiliations
  1. 1Departamento de Genética, Instituto Nacional de Neurología y Neurocirugía, Ciudad de México 14269, Mexico
  2. 2Posgrado en Ciencias Genómicas, Universidad Autónoma de la Ciudad de México, Ciudad de México 03104, Mexico
  3. 3Laboratorio de Neuroquímica, Instituto Nacional de Neurología y Neurocirugía, Ciudad de México 14269, Mexico
  4. 4Genómica Computacional, Instituto Nacional de Medicina Genómica, Ciudad de México 14610, Mexico
  5. 5Laboratorio de Neuropatología Experimental, Instituto Nacional de Neurología y Neurocirugía, Ciudad de México 14269, Mexico
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Abstract

Amyotrophic Lateral Sclerosis (ALS) is a rapidly progressing, fatal neurodegenerative disorder that selectively affects motor neurons. Clinical manifestations include progressive muscle weakness, amyotrophy, fasciculations, dysphagia, and fatal respiratory failure. The median survival after symptom onset is typically 2 to 5 years. Despite its severity, the epidemiological profile and genetic landscape of ALS in Latin American populations, particularly in Mexico, remain unclear. In this study, we evaluated the mutational spectrum of the SOD1 gene in a Mexican cohort of 156 ALS patients. Using high-resolution melting (HRM) analysis and Sanger sequencing, we identified 22 SOD1 variants in 42 of 156 patients (overall variant carrier frequency, 26.92%). Pathogenic or likely pathogenic (P/LP) variants were found in 21 patients (13.5%). Notably, 5 of the 22 variants were novel, expanding the spectrum of SOD1 variants. The variant carrier frequency identified in this study is higher than that reported for European populations but similar to frequencies observed in Asian populations. Our results highlight the distinct genetic heterogeneity of ALS in Mexico and demonstrate that HRM is a rapid and effective method for identifying SOD1 gene variants.

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Cite

BibTeXRIS
BibTeX
@article{gomezperez2026identification,
  title = {{Identification of SOD1 Gene Variants in Mexican Patients with Amyotrophic Lateral Sclerosis}},
  author = {Carlos Alberto Gómez-Pérez and Miguel Ángel Ramírez-García and Elizabeth Ruiz-Sánchez and Sandra Romero-Hidalgo and Adriana Ochoa-Morales and Aurelio Jara-Prado and Marisela Méndez-Armenta and Concepción Nava-Ruiz and Petra Yescas-Gómez},
  journal = {International Journal of Molecular Sciences},
  year = {2026},
  month = oct,
  doi = {10.3390/ijms27209157},
  url = {https://www.mdpi.com/1422-0067/27/20/9157},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Identification of SOD1 Gene Variants in Mexican Patients with Amyotrophic Lateral Sclerosis
AU  - Carlos Alberto Gómez-Pérez
AU  - Miguel Ángel Ramírez-García
AU  - Elizabeth Ruiz-Sánchez
AU  - Sandra Romero-Hidalgo
AU  - Adriana Ochoa-Morales
AU  - Aurelio Jara-Prado
AU  - Marisela Méndez-Armenta
AU  - Concepción Nava-Ruiz
AU  - Petra Yescas-Gómez
PY  - 2026
DA  - 2026/10/01
JO  - International Journal of Molecular Sciences
DO  - 10.3390/ijms27209157
UR  - https://www.mdpi.com/1422-0067/27/20/9157
AB  - Amyotrophic Lateral Sclerosis (ALS) is a rapidly progressing, fatal neurodegenerative disorder that selectively affects motor neurons. Clinical manifestations include progressive muscle weakness, amyotrophy, fasciculations, dysphagia, and fatal respiratory failure. The median survival after symptom onset is typically 2 to 5 years. Despite its severity, the epidemiological profile and genetic landscape of ALS in Latin American populations, particularly in Mexico, remain unclear. In this study, we evaluated the mutational spectrum of the SOD1 gene in a Mexican cohort of 156 ALS patients. Using high-resolution melting (HRM) analysis and Sanger sequencing, we identified 22 SOD1 variants in 42 of 156 patients (overall variant carrier frequency, 26.92%). Pathogenic or likely pathogenic (P/LP) variants were found in 21 patients (13.5%). Notably, 5 of the 22 variants were novel, expanding the spectrum of SOD1 variants. The variant carrier frequency identified in this study is higher than that reported for European populations but similar to frequencies observed in Asian populations. Our results highlight the distinct genetic heterogeneity of ALS in Mexico and demonstrate that HRM is a rapid and effective method for identifying SOD1 gene variants.
SN  - 1422-0067
ER  -