Huntington's disease (HD) is an autosomal-dominant inherited neurodegenerative disorder characterized by motor dysfunction, cognitive decline, and emotional and psychiatric disturbances. The genetic mutation is characterized by a CAG expansion, resulting in the formation of a mutant huntingtin protein with an expanded polyglutamine repeat region. Mutated huntingtin has been shown to impair a number of physiological activities by interacting with several factors. In particular, cAMP response element-binding protein (CREB) and brain-derived neurotrophic factor (BDNF) are severely affected by mutant huntingtin. In this view, drugs targeted at counteracting CREB loss of function and BDNF decrease have been considered as powerful tools to treat HD. Recently, cyclic nucleotide phosphodiesterase (PDE) inhibitors have been used successfully to increase levels of CREB and BDNF in HD models. Indeed, PDE4, 5 or 10 inhibitors have been shown to afford neuroprotection and modulation of CREB and BDNF. In this review, we will summarize the data supporting the use of PDE inhibitors as the therapeutical approach to fight HD and we will discuss the possible mechanisms of action underlying these effects.
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http://dx.doi.org/10.2174/1381612820666140826113957 | DOI Listing |
Neurol Int
January 2025
Department of Neurology, Medical University of Innsbruck, Innsbruck 6020, Austria.
Huntington's disease (HD) is a progressive neurodegenerative disorder for which, until now, only symptomatic treatment has been available. Lately, there have been multiple ongoing clinical trials targeting therapeutic agents for preventing disease onset or slowing disease progression in HD. These studies are in constant need of reliable biomarkers for neurodegeneration in HD.
View Article and Find Full Text PDFMetabolites
January 2025
Department of Obstetrics and Gynecology, Oakland University-William Beaumont School of Medicine, Rochester, MI 48309, USA.
Background: Huntington's disease (HD) is a multifaceted neurological disorder characterized by the progressive deterioration of motor, cognitive, and psychiatric functions. Despite a limited understanding of its pathogenesis, research has implicated abnormal trinucleotide cytosine-adenine-guanine CAG repeat expansion in the huntingtin gene (HTT) as a critical factor. The development of innovative strategies is imperative for the early detection of predictive biomarkers, enabling timely intervention and mitigating irreversible cellular damage.
View Article and Find Full Text PDFCells
January 2025
Department of Physiology, College of Medicine, Hallym University, Chuncheon 24252, Republic of Korea.
Phosphodiesterase (PDE) enzymes regulate intracellular signaling pathways crucial for brain development and the pathophysiology of neurological disorders. Among the 11 PDE subtypes, PDE4 and PDE5 are particularly significant due to their regulation of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) signaling, respectively, which are vital for learning, memory, and neuroprotection. This review synthesizes current evidence on the roles of PDE4 and PDE5 in neurological health and disease, focusing on their regulation of second messenger pathways and their implications for brain function.
View Article and Find Full Text PDFBrain Sci
January 2025
Unidad de Trastornos del Movimiento y Sueño, Hospital General Dr. Manuel Gea González, Calzada de Tlalpan 4800, Mexico City 14080, Mexico.
Advanced magnetic resonance imaging (MRI) techniques are transforming the study of movement disorders by providing valuable insights into disease mechanisms. This narrative review presents a comprehensive overview of their applications in this field, offering an updated perspective on their potential for early diagnosis, disease monitoring, and therapeutic evaluation. Emerging MRI modalities such as neuromelanin-sensitive imaging, diffusion-weighted imaging, magnetization transfer imaging, and relaxometry provide sensitive biomarkers that can detect early microstructural degeneration, iron deposition, and connectivity disruptions in key regions like the substantia nigra.
View Article and Find Full Text PDFBrain Sci
January 2025
Biomedical Research Center, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA.
The molecular biology of Huntington's Disease (HD) has grown substantially, with pathological considerations extending to genetic modifiers, epigenetic changes, transcriptomics, the proteome, and the metabolome. The metabolome and proteome are especially intriguing in that they most directly reflect the functional state of the cellular environment, which may involve some combination of pathology as well as compensation. We assessed CSF proteomics from eight participants by their functional severity (TFC range 3-13), with 47 proteins having a minimum r-value of 0.
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