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Toward a biological definition of neuronal and glial synucleinopathies.
Nat Med
January 2025
Department of Neurology & Neurological Sciences, Stanford Movement Disorders Center, Stanford University, Stanford, CA, USA.
Cerebral accumulation of alpha-synuclein (αSyn) aggregates is the hallmark event in a group of neurodegenerative diseases-collectively called synucleinopathies-which include Parkinson's disease, dementia with Lewy bodies and multiple system atrophy. Currently, these are diagnosed by their clinical symptoms and definitively confirmed postmortem by the presence of αSyn deposits in the brain. Here, we summarize the drawbacks of the current clinical definition of synucleinopathies and outline the rationale for moving toward an earlier, biology-anchored definition of these disorders, with or without the presence of clinical symptoms.
View Article and Find Full Text PDFExperience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories.
Am J Hum Genet
January 2025
Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.
Various scientific and professional groups, including the American Medical Association (AMA), American Society of Human Genetics (ASHG), American College of Medical Genetics (ACMG), and the National Academies of Sciences, Engineering, and Medicine (NASEM), have appropriately clarified that certain population descriptors, such as race and ethnicity, are social and cultural constructs with no basis in genetics. Nevertheless, these conventional population descriptors are routinely collected during the course of clinical genetic testing and may be used to interpret test results. Experts who have examined the use of population descriptors, both conventional and ancestry based, in human genetics and genomics have offered guidance on using these descriptors in research but not in clinical laboratory settings.
View Article and Find Full Text PDFSmall-molecule activators of NRF1 transcriptional activity prevent protein aggregation.
Biomed Pharmacother
January 2025
Institute of Organic Chemistry and Biochemistry of the Czech Academy of Sciences, Flemingovo n. 2, Prague 16610, Czech Republic; Department of Genetics and Microbiology, Charles University and Research Center BIOCEV, Prumyslova 595, Vestec 25250, Czech Republic. Electronic address:
Intracellular protein aggregation causes proteotoxic stress, underlying highly debilitating neurodegenerative disorders in parallel with decreased proteasome activity. Nevertheless, under such stress conditions, the expression of proteasome subunits is upregulated by Nuclear Factor Erythroid 2-related factor 1 (NRF1), a transcription factor that is encoded by NFE2L1. Activating the NRF1 pathway could accordingly delay the onset of neurodegenerative and other disorders with impaired cell proteostasis.
View Article and Find Full Text PDFEstrogen-related receptor gamma is a regulator of mitochondrial, autophagy, and immediate-early gene programs in spiny projection neurons: Relevance for transcriptional changes in Huntington disease.
Neurobiol Dis
January 2025
Department of Neurology and Center for Neurodegeneration and Experimental Therapeutics, University of Alabama at Birmingham, Birmingham, AL 35294, USA; Southern Research, Birmingham, AL 35205, USA. Electronic address:
Mitochondrial dysfunction, transcriptional dysregulation, and protein aggregation are hallmarks of multiple neurodegenerative disorders, including Huntington's disease (HD). Strategies are needed to counteract these processes to restore neuronal health and function in HD. Recent evidence indicates that the transcription factor estrogen-related receptor gamma (ERRγ/Esrrg) is required for normal expression of mitochondrial, synaptic, and autophagy genes in neurons.
View Article and Find Full Text PDFThe changes in health-related quality of life after attending cardiac rehabilitation: A qualitative systematic review of the perspective of patients living with heart disease.
PLoS One
January 2025
Faculty of Health, Liverpool John Moores University, Liverpool, England, United Kingdom.
Background: Although the benefits of engaging in cardiac rehabilitation are well established, patient perceptions of the changes in their health-related quality of life are poorly documented. This systematic review synthesized qualitative studies on patients' perspectives of change in their health-related quality of life after attending cardiac rehabilitation.
Objective: To identify and synthesize the best available evidence on the perspective of patients living with heart disease about the changes in their health-related quality of life after attending cardiac rehabilitation.
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