Brain cholesterol therapy for Huntington's disease – Does it make sense?

Cattaneo, Elena; Barker, Roger A

doi:10.1002/ctm2.1746

Clinical & Translational Med

2024

DOI: 10.1002/ctm2.1746

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Brain cholesterol therapy for Huntington's disease – Does it make sense?

Elena Cattaneo,

Roger A Barker

Abstract: How to cite this article: Cattaneo E, Barker RA. Brain cholesterol therapy for Huntington's disease -Does it make sense?.

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When repetita no-longer iuvant: somatic instability of the CAG triplet in Huntington’s disease

Cattaneo,

Scalzo,

Zobel

et al. 2024

Nucleic Acids Research

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Trinucleotide repeats in DNA exhibit a dual nature due to their inherent instability. While their rapid expansion can diversify gene expression during evolution, exceeding a certain threshold can lead to diseases such as Huntington’s disease (HD), a neurodegenerative condition, triggered by >36 C–A–G repeats in exon 1 of the Huntingtin gene. Notably, the discovery of somatic instability (SI) of the tract allows these mutations, inherited from an affected parent, to further expand throughout the patient’s lifetime, resulting in a mosaic brain with specific neurons exhibiting variable and often extreme CAG lengths, ultimately leading to their death. Genome-wide association studies have identified genetic variants—both cis and trans, including mismatch repair modifiers—that modulate SI, as shown in blood cells, and influence HD’s age of onset. This review will explore the evidence for SI in HD and its role in disease pathogenesis, as well as the therapeutic implications of these findings. We conclude by emphasizing the urgent need for reliable methods to quantify SI for diagnostic and prognostic purposes.

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When repetita no-longer iuvant: somatic instability of the CAG triplet in Huntington’s disease

Cattaneo,

Scalzo,

Zobel

et al. 2024

Nucleic Acids Research

View full text Add to dashboard Cite

show abstract

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Brain cholesterol therapy for Huntington's disease – Does it make sense?

Abstract: How to cite this article: Cattaneo E, Barker RA. Brain cholesterol therapy for Huntington's disease -Does it make sense?.

Cited by 1 publication

References 11 publications

When repetita no-longer iuvant: somatic instability of the CAG triplet in Huntington’s disease

When repetita no-longer iuvant: somatic instability of the CAG triplet in Huntington’s disease

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