Gene expression profiling in Huntington’s disease: Does comorbidity with depressive symptoms matter?

Gabriela Delevati Colpo, Natalia Pessoa Rocha, Erin Furr Stimming, Antonio Lucio Teixeira

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


Huntington’s disease (HD) is an inherited neurodegenerative disease. Besides the well-characterized motor symptoms, HD is marked by cognitive impairment and behavioral changes. In this study, we analyzed the blood of HD gene carries using RNA-sequencing techniques. We evaluated samples from HD gene carriers with (n = 8) and without clinically meaningful depressive symptoms (n = 8) compared with healthy controls (n = 8). Groups were age-and sex-matched. Preprocessing of data and between-group comparisons were calculated using DESeq2. The Wald test was used to generate p-values and log2 fold changes. We found 60 genes differently expressed in HD and healthy controls, of which 21 were upregulated and 39 downregulated. Within HD group, nineteen genes were differently expressed between patients with and without depression, being 6 upregulated and 13 downregulated. Several of the top differentially expressed genes are involved in nervous system development. Although preliminary, our findings corroborate the emerging view that in addition to neurodegenerative mechanisms, HD has a neurodevelopmental component. Importantly, the emergence of depression in HD might be related to these mechanisms.

Original languageEnglish (US)
Article number8474
Pages (from-to)1-17
Number of pages17
JournalInternational journal of molecular sciences
Issue number22
StatePublished - Nov 2 2020
Externally publishedYes


  • Depression
  • Huntington’s disease
  • Neurodegenerative disease
  • Neurodevelopment
  • RNA-seq

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry


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