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<p>Amyotrophic lateral sclerosis (ALS) is a disabling and fatal neurological disease, which is characterized by the loss of motor neuron function in the brain and spinal cord. Due to genetic complexity, ALS disease is not well understood. By applying a bioinformatic approach, referred to as convergent analysis, we identified the poorly characterized protein FAM120A as a new candidate gene related to RNA metabolism, a process known to be affected during ALS disease. We studied Fam120A in the context of ALS <i>in vivo</i> and <i>in vitro</i> using an ALS mouse model and a cellular model. We found that <i>Fam120A</i> mRNA levels were decreased in the pre-symptomatic stage in the spinal cord of SOD1<sup>G93A</sup> mice, while Fam120A protein levels were decreased at the symptomatic stage. Fam120A was expressed mainly in neurons in the spinal cord. Overexpression of FAM120A in a motor neuron cell culture model decreased the levels of SOD1<sup>G93A</sup> aggregates. In summary, our results warrant further studies of FAM120A in the context of ALS, since it appears to be involved in disease progression and might have a role in proteostasis maintenance.</p>

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FAM120A - a protein inserted in the ALS disease network

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年2月10日

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  • Emiliano Vicencio,
  • Laura Gomez,
  • Sebastian Beltran,
  • Fernanda Hernandez,
  • Leonardo Rodriguez,
  • Constanza Bravo,
  • Thiare Jofré,
  • Fabián Gálvez,
  • Luis Labrador,
  • Diego Rojas-Rivera,
  • Bastián I. Cortés,
  • Cristian Cortez,
  • Patricio Manque,
  • Ute Woehlbier

摘要

Amyotrophic lateral sclerosis (ALS) is a disabling and fatal neurological disease, which is characterized by the loss of motor neuron function in the brain and spinal cord. Due to genetic complexity, ALS disease is not well understood. By applying a bioinformatic approach, referred to as convergent analysis, we identified the poorly characterized protein FAM120A as a new candidate gene related to RNA metabolism, a process known to be affected during ALS disease. We studied Fam120A in the context of ALS in vivo and in vitro using an ALS mouse model and a cellular model. We found that Fam120A mRNA levels were decreased in the pre-symptomatic stage in the spinal cord of SOD1G93A mice, while Fam120A protein levels were decreased at the symptomatic stage. Fam120A was expressed mainly in neurons in the spinal cord. Overexpression of FAM120A in a motor neuron cell culture model decreased the levels of SOD1G93A aggregates. In summary, our results warrant further studies of FAM120A in the context of ALS, since it appears to be involved in disease progression and might have a role in proteostasis maintenance.