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Related Experiment Videos

Genetics Modulate Gray Matter Variation Beyond Disease Burden in Prodromal Huntington's Disease.

Jingyu Liu1,2, Jennifer Ciarochi3,4, Vince D Calhoun1,2

  • 1The Mind Research Network & Lovelace Biomedical and Environmental Research Institute (LBERI), Albuquerque, NM, United States.

Frontiers in Neurology
|April 14, 2018
PubMed
Summary

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Early genetic factors influence brain structure and function in prodromal Huntington's disease (HD). These changes in gray matter (GM) occur before significant disease burden, impacting cognitive and motor skills.

Area of Science:

  • Neuroscience
  • Genetics
  • Neurodegenerative Disorders

Background:

  • Huntington's disease (HD) is a neurodegenerative disorder caused by CAG trinucleotide expansion in the HTT gene.
  • Prodromal HD shows cognitive and motor decline, necessitating understanding of genetic influences beyond CAG expansion.
  • Identifying early genetic markers can aid in developing targeted intervention therapies.

Purpose of the Study:

  • To investigate genetic influences on gray matter (GM) changes and their association with cognitive and motor function in prodromal HD.
  • To identify genetic factors affecting GM components independent of CAG-induced disease burden.
  • To explore associations between specific genetic variations and GM volumes in relevant brain regions.

Main Methods:

  • Independent component analysis (ICA) was used to extract GM components from a cohort of 715 prodromal HD participants.
Keywords:
Huntington’s diseasecognitiongenetic modifiergray matterprodromal disease progression

Related Experiment Videos

  • Statistical analyses tested associations between GM components and cognitive/motor functions, controlling for CAG expansion and age.
  • Genetic association analyses examined single-nucleotide polymorphisms (SNPs) within the HD pathway and candidate regions.

    • Main Results:

    • GM in occipital regions (cuneus, lingual) positively correlated with attention and working memory, independent of disease burden.
    • Prodromal HD patients with dystonia showed reduced GM in the inferior parietal component.
    • Specific SNPs in NCOR1 and ADORA2B (HD pathway) were linked to reduced cuneus GM volume.
    • SNPs in a 15q13.3 region were associated with altered inferior parietal GM volume and motor function.

    Conclusions:

    • Early, genetically influenced GM reduction occurs in prodromal HD, irrespective of overall disease burden.
    • These GM changes affect brain regions critical for cognitive and motor performance.
    • Findings highlight potential early biomarkers and therapeutic targets for Huntington's disease intervention.