Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosis

Hum Mol Genet. 2016 Nov 1;25(21):4771-4786. doi: 10.1093/hmg/ddw304.

Abstract

Recent genetic studies yielded conflicting results regarding a role for the variant chromogranin B (CHGB)P413L allele as a disease modifier in ALS. Moreover, potential deleterious effects of the CHGBP413L variant in ALS pathology have not been investigated. Here we report that in transfected cultured cells, the variant CHGBL413 protein exhibited aberrant properties including mislocalization, failure to interact with mutant superoxide dismutase 1 (SOD1) and defective secretion. The CHGBL413 transgene in SOD1G37R mice precipitated disease onset and pathological changes related to misfolded SOD1 specifically in female mice. However, the CHGBL413 variant also slowed down disease progression in SOD1G37R mice, which is in line with a very slow disease progression that we report for a Swedish woman with ALS who is carrier of two mutant SOD1D90A alleles and two variant CHGBP413L and CHGBR458Q alleles. In contrast, overexpression of the common CHGBP413 allele in SOD1G37R mice did not affect disease onset but significantly accelerated disease progression and pathological changes. As in transgenic mice, the CHGBP413L allele conferred an earlier ALS disease onset in women of Japanese and French Canadian origins with less effect in men. Evidence is presented that the sex-dependent effects of CHGBL413 allelic variant in ALS may arise from enhanced neuronal expression of CHGB in females because of a sex-determining region Y element in the gene promoter. Thus, our results suggest that CHGB variants may act as modifiers of onset and progression in some ALS populations and especially in females because of higher expression levels compared to males.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amyotrophic Lateral Sclerosis / genetics*
  • Animals
  • Cell Culture Techniques
  • Chromogranin B / genetics*
  • Chromogranin B / metabolism*
  • Disease Models, Animal
  • Disease Progression
  • Female
  • Gene Frequency / genetics
  • Humans
  • Male
  • Mice
  • Mice, Transgenic
  • Motor Neurons / metabolism
  • Mutation / genetics
  • Polymorphism, Single Nucleotide / genetics
  • Sex Factors
  • Spinal Cord / metabolism
  • Superoxide Dismutase-1 / genetics
  • Superoxide Dismutase-1 / metabolism

Substances

  • CHGB protein, human
  • Chromogranin B
  • Superoxide Dismutase-1

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