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Author Spotlight: Optimization of Performance Parameters of the TAGGG Telomere Length Assay
Published on: April 21, 2023
Telomere length analysis on leukocytes derived from patients with Huntington Disease
Adriana PerezGrovas-Saltijeral1, Adriana Ochoa-Morales2, Antonio Miranda-Duarte1
1Genetics Department, National Institute of Rehabilitation, Calz México-Xochimilco 289, Arenal de Guadalupe, Z.C., 14389, Mexico City, Mexico.
Insights
Huntington's disease (HD) is linked to shorter telomeres. Leukocyte telomere length was significantly reduced in HD patients compared to controls, suggesting telomere shortening may serve as a biomarker for this neurodegenerative disorder.
Area of Science:
- Neuroscience
- Genetics
- Cell Biology
Background:
- Huntington's disease (HD) is a neurodegenerative disorder with neuropsychiatric, motor, and cognitive symptoms, caused by CAG trinucleotide expansion in the HTT gene.
- The precise molecular mechanisms underlying HD are not fully understood, but DNA damage, including double-strand breaks and oxidative stress, is implicated.
- Telomeres, protective caps at the ends of chromosomes, are susceptible to DNA breaks and inefficient repair, potentially leading to telomere shortening and cellular senescence.
Purpose of the Study:
- To investigate the correlation between leukocyte relative telomeric length (RTL) and Huntington's disease (HD).
- To explore the potential of telomere shortening as a biomarker for HD.
Main Methods:
- Analysis of 206 DNA samples.
- Categorization of samples into three groups: Huntington's disease patients (HD, n=71), pre-symptomatic individuals with a positive molecular test (PP, n=29), and normal healthy individuals (NP, n=106).
- Measurement and comparison of leukocyte relative telomeric length (RTL) across the groups.
Main Results:
- A significant difference in RTL was observed between HD patients and both PP and NP groups.
- This significant difference in RTL between HD patients and controls was independent of the subjects' age.
- The findings indicate a correlation between telomere shortening and the presence of Huntington's disease.
Conclusions:
- Evidence supports an association between telomere shortening and Huntington's disease.
- Telomere shortening in HD may be linked to increased DNA damage from reactive oxygen species (ROS) and impaired DNA repair mechanisms, both associated with mutant Huntingtin.
- Leukocyte telomere length shows potential as a biomarker for Huntington's disease.
Introduction:
Huntington´s disease (HD) is a neurodegenerative disorder characterized by neuropsychiatric, motor and cognitive manifestations. It is caused by expansion of the trinucleotide CAG on HTT. The molecular bases are not completely understood, DNA damage, such as double and single strand breaks and oxidative stress (OS) have been implicated. At telomeres, DNA breaks are less efficiently repaired. Double strand breaks evoke the break induced replication (BIR) mechanism. BIR, plus inefficient repair can produce telomere shortening and cellular senescence. Our aim was to investigate the correlation between leukocyte relative telomeric length (RTL) and HD.
Methods:
206 samples were analyzed, 71 patients with molecular diagnosis and symptomatology (HD), 29 individuals with positive molecular test but asymptomatic (PP) and 106 healthy individuals (NP).
Results:
We found a significant difference in RTL between HD patients compared with both, PP and NP, independently of subjects' age.
Discussion:
Here we present evidence supporting an association between telomere shortening and HD. Telomere shortening could be related to DNA damage caused by ROS and defective DNA repair mechanism. Both events have been probed to occur in the presence of a mutant Huntingtin. This study contributes with current evidence suggesting a potential role of telomere shortening as HD biomarker.
