A single nucleotide polymorphism in the coding region of PGC-1α is a male-specific modifier of Huntington disease age-at-onset in a large European cohort
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BACKGROUND: Genetic modifiers are important clues for the identification of therapeutic targets in neurodegenerative diseases. Huntington disease (HD) is one of the most common autosomal dominant inherited neurodegenerative diseases. The clinical symptoms include motor abnormalities, cognitive decline and behavioral disturbances. Symptom onset is typically between 40 and 50 years of age, but can vary by several decades in extreme cases and this is in part determined by modifying genetic factors. The metabolic master regulator PGC-1α, coded by the PPARGC1A gene, coordinates cellular respiration and was shown to play a role in neurodegenerative diseases, including HD. METHODS: Using a candidate gene approach we analyzed a large European cohort (n = 1706) from the REGISTRY study for associations between PPARGC1A genotype and age at onset (AO) in HD. RESULTS: We report that a coding variant (rs3736265) in PPARGC1A is associated with an earlier motor AO in men but not women carrying the HD mutation. CONCLUSIONS: These results further strengthen the evidence for a role of PGC-1α in HD and unexpectedly suggest a gender effect.
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In populations with neurological damage such as multiple sclerosis, mindfulness-based interventions have demonstrated benefits in quality of life and improvements for people experiencing depression.
“In populations with neurological damage, such as multiple sclerosis, MBIs have demonstrated benefits in QoL [14], as well as improvements for people experiencing depression [15].”
From Mindfulness for pain, depression, anxiety, and quality of life in people with spinal cord injury: A systematic review (2020) · cites this paper as [14]
The Methods and Results and discussion sections examine a genetic modifier of Huntington disease age at onset, not mindfulness-based interventions. Searches for mindfulness, multiple sclerosis, and quality of life found no passage addressing the QoL benefit attributed to this source. The depression improvement in the citing sentence has a separate citation [15]. Page numbers are unavailable in our copy. (LLM, conf=0.78)
Experimental — accuracy not yet measuredThomas et al reported significant positive changes in physical health assessed by the Multiple Sclerosis Impact Scale and vitality as measured by the Short Form Health Survey 36 in the intervention group 12 months after fatigue self-management treatment.
“Thomas et al127 reported significant positive changes in physical health assessed by the Multiple Sclerosis Impact Scale (MSIS-29) and vitality as measured by the SF-36 in the intervention group 12 months after the treatment.”
From Quality of life in adults with multiple sclerosis: A systematic review (2020) · cites this paper as [127]
Three studies were specifically directed towards the treatment of fatigue by light guided imagery or self-management programmes; both the imagery and self-management group intervention approaches were successful, whereas the individual self-management programme did not show significant improvement.
“Three studies were specifically directed towards the treatment of fatigue112 126 127 by light guided imagery or self-management programmes. Both the imagery and self-management group intervention approaches were successful, whereas the individual self-management programme did not show significant improvement.”
From Quality of life in adults with multiple sclerosis: A systematic review (2020) · cites this paper as [127]
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- Authors
- For the European Huntington Disease Network, Weydt, P., Soyal, S. M., Landwehrmeyer, G. B., & Patsch, W.
- Affiliations
- Universität Ulm (DE)
- Paracelsus Medical University (AT)
- Corresponding author
- Weydt, Patrick
- Venue
- BMC Neurology
- Published
- 2014-01-02
- Volume
- 14
- Issue
- 1
- Pages
- 1-1
- ISSN
- 1471-2377 (ISSN-L)
- PMC
- PMC3880172
- OpenAlex
- W1990817194
- Cited by
- 206
- References
- 36
- Citations by year
- 2026: 1 · 2025: 10 · 2024: 8 · 2023: 8 · 2022: 4 · 2021: 50 · 2020: 25 · 2019: 13 · 2018: 24 · 2017: 29 · 2016: 21 · 2015: 5 · 2014: 8
- FWCI
- 9.59
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- BMC Neurology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- European Huntington's Disease Network
- Austrian Science Fund (P 19893)
- Deutsches Zentrum für Neurodegenerative Erkrankungen
- Paracelsus Medizinische Privatuniversität
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Keywords
- Huntington's disease, PGC-1α, single nucleotide polymorphisms, age of onset, genetic modifiers, sex differences, motor symptoms, neurodegeneration, candidate gene association
- MeSH terms
- Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha, Europe, Female, Humans, Huntington Disease, Male, Registries, Transcription Factors, Cohort Studies, Open Reading Frames, Age of Onset, Polymorphism, Single Nucleotide
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