Elsevier eBooks, Journal Year: 2024, Volume and Issue: unknown, P. 119 - 158
Published: Nov. 1, 2024
Language: Английский
Journal of Inherited Metabolic Disease, Journal Year: 2024, Volume and Issue: 47(1), P. 176 - 191
Published: Jan. 1, 2024
Abstract Inborn errors of neurotransmitter (NT) metabolism are a group rare, heterogenous diseases with predominant neurological features, such as movement disorders, autonomic dysfunction, and developmental delay. Clinical overlap other disorders has led to delayed diagnosis treatment, some conditions refractory oral pharmacotherapies. Gene therapies have been developed translated clinics for paediatric inborn metabolism, 38 interventional clinical trials ongoing date. Furthermore, efforts in restoring dopamine synthesis neurotransmission through viral gene therapy Parkinson's disease. Along the recent European Medicines Agency (EMA) Healthcare Products Regulatory (MHRA) approval an AAV2 supplementation AADC deficiency, promising efficacy safety profiles can be achieved this diseases. In review, we present preclinical advances address NT‐related diseases, summarise potential challenges that require careful considerations NT studies.
Language: Английский
Citations
9
Biochemical Society Transactions, Journal Year: 2024, Volume and Issue: 52(3), P. 1275 - 1291
Published: May 30, 2024
Parkinsonism is the primary type of movement disorder in adults, encompassing a set clinical symptoms, including rigidity, tremors, dystonia, bradykinesia, and postural instability. These symptoms are primarily caused by deficiency dopamine (DA), an essential neurotransmitter brain. Currently, DA precursor levodopa (synthetic L-DOPA) standard medication to treat deficiency, but it only addresses rather than provides cure. In this review, we provide overview disorders associated with dysregulation particularly Parkinson's disease rare inherited leading predominantly dystonia and/or parkinsonism, even childhood. Although relatively effective for management motor dysfunctions, less severe forms parkinsonism also side effects loss efficacy over time. We present ongoing efforts reinforce effect develop innovative therapies that target underlying pathogenic mechanisms affecting synthesis transport, increasing neurotransmission through disease-modifying approaches, such as cell-based therapies, nucleic acid- protein-based biologics, small molecules.
Language: Английский
Citations
5
IntechOpen eBooks, Journal Year: 2025, Volume and Issue: unknown
Published: March 20, 2025
Neuroinflammation is an inflammatory response that affects the central nervous system. This process involves activation of immune cells like microglia and astrocytes, as well production chemicals cytokines chemokines. can be caused by a variety circumstances, including trauma, infection, autoimmune illnesses, environmental factors, any stress scenario, neurodegenerative diseases. thought to connected with psychiatric disorders. These illnesses include depression, anxiety disorders, schizophrenia, bipolar disorder. Research in biological neuropsychiatry assist establishing future treatment options demonstrating how neuroinflammation contributes illness. book chapter explains major contributor mental this topic significant study therapy.
Language: Английский
Citations
0
Journal of Inherited Metabolic Disease, Journal Year: 2024, Volume and Issue: 47(1), P. 5 - 6
Published: Jan. 1, 2024
Language: Английский
Citations
2
Cureus, Journal Year: 2024, Volume and Issue: unknown
Published: Aug. 16, 2024
Gene therapy as a disease-modifying therapeutic approach for neurodegenerative diseases, such Alzheimer's disease (AD) and Parkinson's (PD), is promising avenue. Promising results in the preclinical studies involving rodents nonhuman primates utilizing gene have led to multiple clinical trials evaluating various genes of interest AD PD. In AD, are assessing brain-derived neurotrophic factor (BDNF) other targets apolipoprotein E2 (APOE2) human telomerase reverse transcriptase (hTERT). PD, delivering factors, glial cell line-derived (GDNF). Additionally, enzymes aromatic L-amino acid decarboxylase (AADC) glutamic (GAD) also being evaluated All these primarily utilized adeno-associated virus (AAV) deliver above transgene interest. This review summarizes current It discusses challenges opportunities associated with PD ongoing developments related increasing safety efficacy long-term outcomes, which include evaluation serotypes administration routes. comprehensive emphasizes translating findings into trials, further directions, potential this alleviate disease.
Language: Английский
Citations
2
Neuroscience, Journal Year: 2024, Volume and Issue: unknown
Published: Dec. 1, 2024
Language: Английский
Citations
1
Molecular Biology Reports, Journal Year: 2024, Volume and Issue: 51(1)
Published: April 22, 2024
Abstract Adeno-associated virus (AAV) has emerged as a pivotal tool in neuroscience research, owing to its remarkable versatility and efficiency delivering genetic material diverse cell types within the nervous system. This mini review aims underscore advanced applications of AAV vectors their profound potential revolutionize our understanding brain function therapeutic interventions for neurological disorders. By providing concise overview latest developments strategies employing vectors, this illuminates transformative role technology unraveling complexities neural circuits paving way innovative treatments. Through elucidating multifaceted capabilities AAV-mediated gene delivery, underscores cornerstone contemporary promising insights into intricacies biology offering new avenues intervention.
Language: Английский
Citations
1
Elsevier eBooks, Journal Year: 2024, Volume and Issue: unknown
Published: Jan. 1, 2024
Language: Английский
Citations
0
Elsevier eBooks, Journal Year: 2024, Volume and Issue: unknown, P. 119 - 158
Published: Nov. 1, 2024
Language: Английский
Citations
0