The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives

Casallas, Julio César García; Bustos, Rosa-Helena

doi:10.3390/brainsci8120222

Cited by 33 publications

(21 citation statements)

References 155 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Several common features of neurodegeneration have been studied and associated to the molecular pathogenesis of AD, PD, and ALS, and these include neuroinflammation, autophagy, and oxidative stress [ 7 , 8 ]. Moreover, pathogenic mutations, amyloid precursor proteins, superoxide dismutase, and DNA and RNA binding proteins are important contributing factors to these neurodegenerative diseases [ 9 ]. Although many common features have been found and studied, other emergent mechanisms remain unclear.…”

Section: Introductionmentioning

confidence: 99%

Alzheimer’s, Parkinson’s Disease and Amyotrophic Lateral Sclerosis Gene Expression Patterns Divergence Reveals Different Grade of RNA Metabolism Involvement

Pandini

Bordoni

Pansarasa

et al. 2020

IJMS

View full text Add to dashboard Cite

Alzheimer’s disease (AD), Parkinson’s disease (PD), and amyotrophic lateral sclerosis (ALS) are neurodegenerative disorders characterized by a progressive degeneration of the central or peripheral nervous systems. A central role of the RNA metabolism has emerged in these diseases, concerning mRNAs processing and non-coding RNAs biogenesis. We aimed to identify possible common grounds or differences in the dysregulated pathways of AD, PD, and ALS. To do so, we performed RNA-seq analysis to investigate the deregulation of both coding and long non-coding RNAs (lncRNAs) in ALS, AD, and PD patients and controls (CTRL) in peripheral blood mononuclear cells (PBMCs). A total of 293 differentially expressed (DE) lncRNAs and 87 mRNAs were found in ALS patients. In AD patients a total of 23 DE genes emerged, 19 protein coding genes and four lncRNAs. Through Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Ontology (GO) analyses, we found common affected pathways and biological processes in ALS and AD. In PD patients only five genes were found to be DE. Our data brought to light the importance of lncRNAs and mRNAs regulation in three principal neurodegenerative disorders, offering starting points for new investigations on deregulated pathogenic mechanisms.

show abstract

Section: Introductionmentioning

confidence: 99%

Alzheimer’s, Parkinson’s Disease and Amyotrophic Lateral Sclerosis Gene Expression Patterns Divergence Reveals Different Grade of RNA Metabolism Involvement

Pandini

Bordoni

Pansarasa

et al. 2020

IJMS

View full text Add to dashboard Cite

show abstract

“…The importance of genetics in the development of neurodegenerative diseases has been studied extensively in the last two or more decades [ 43 - 47 ]. These studies have demonstrated the central role played by genes in the aetiopathogenesis of these disorders.…”

Section: Introductionmentioning

confidence: 99%

Melatonin and Melatonergic Influence on Neuronal Transcription Factors: Implications for the Development of Novel Therapies for Neurodegenerative Disorders

Onaolapo

Olowe

et al. 2020

View full text Add to dashboard Cite

: Melatonin is a multifunctional signalling molecule that is secreted by the mammalian pineal gland, and also found in a number of organisms including plants and bacteria. Research has continued to uncover an ever-increasing number of processes in which melatonin is known to play crucial roles in mammals. Amongst these functions is its contribution to cell multiplication, differentiation and survival in the brain. Experimental studies show that melatonin can achieve these functions by influencing transcription factors which control neuronal and glial gene expression. Since neuronal survival and differentiation are processes that are important determinants of the pathogenesis, course and outcome of neurodegenerative disorders; the known and potential influences of melatonin on neuronal and glial transcription factors are worthy of constant examination. In this review, we examine relevant scientific literature on the role of melatonin in preventing, or altering the course and outcome of neurodegenerative disorders, by focusing on melatonin’s influence on transcription factors. We also highlight a number of transcription factors whose functions can be influenced by melatonin in neurodegenerative disease models. Finally, we discuss the therapeutic implications of melatonin’s influences, and highlight the potential limitations to its applications.

show abstract

“…The exact factors and aetiology of neurodegenerative diseases are still unknown but various risk factors such as environmental pollutants, familial history and genetic variants at several gene loci have been identified [ 16 ]. The hereditary cause of neurodegenerative diseases is well-established and there are recent advances exploring the possible use of genetic sequencing of various genetic markers in the diagnosis of neurodegenerative diseases [ 17 ].…”

Section: Neurological Disordersmentioning

confidence: 99%

Nanoparticle-Based Technology Approaches to the Management of Neurological Disorders

Sim

Tarini

Dheen

et al. 2020

IJMS

View full text Add to dashboard Cite

Neurological disorders are the most devastating and challenging diseases associated with the central nervous system (CNS). The blood-brain barrier (BBB) maintains homeostasis of the brain and contributes towards the maintenance of a very delicate microenvironment, impairing the transport of many therapeutics into the CNS and making the management of common neurological disorders such as Alzheimer’s disease (AD), Parkinson’s disease (PD), cerebrovascular diseases (CVDs) and traumatic brain injury (TBI), exceptionally complicated. Nanoparticle (NP) technology offers a platform for the design of tissue-specific drug carrying systems owing to its versatile and modifiable nature. The prospect of being able to design NPs capable of successfully crossing the BBB, and maintaining a high drug bioavailability in neural parenchyma, has spurred much interest in the field of nanomedicine. NPs, which also come in an array of forms including polymeric NPs, solid lipid nanoparticles (SLNs), quantum dots and liposomes, have the flexibility of being conjugated with various macromolecules, such as surfactants to confer the physical or chemical property desired. These nanodelivery strategies represent potential novel and minimally invasive approaches to the treatment and diagnosis of these neurological disorders. Most of the strategies revolve around the ability of the NPs to cross the BBB via various influx mechanisms, such as adsorptive-mediated transcytosis (AMT) and receptor-mediated transcytosis (RMT), targeting specific biomarkers or lesions unique to that pathological condition, thereby ensuring high tissue-specific targeting and minimizing off-target side effects. In this article, insights into common neurological disorders and challenges of delivering CNS drugs due to the presence of BBB is provided, before an in-depth review of nanoparticle-based theranostic strategies.

show abstract

The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives

Cited by 33 publications

References 155 publications

Alzheimer’s, Parkinson’s Disease and Amyotrophic Lateral Sclerosis Gene Expression Patterns Divergence Reveals Different Grade of RNA Metabolism Involvement

Alzheimer’s, Parkinson’s Disease and Amyotrophic Lateral Sclerosis Gene Expression Patterns Divergence Reveals Different Grade of RNA Metabolism Involvement

Melatonin and Melatonergic Influence on Neuronal Transcription Factors: Implications for the Development of Novel Therapies for Neurodegenerative Disorders

Nanoparticle-Based Technology Approaches to the Management of Neurological Disorders

Contact Info

Product

Resources

About