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Molecular Genetics and Genomics in Brain Disorders
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Molecular Genetics and Genomics in Brain Disorders

A special issue of Current Issues in Molecular Biology (ISSN 1467-3045). This special issue belongs to the section "Molecular Medicine".

Deadline for manuscript submissions: closed (30 December 2024) | Viewed by 12189

Special Issue Editor

Dr. Daisy Sproviero

E-Mail Website
Guest Editor
IFOM—The FIRC Institute of Molecular Oncology, 20139 Milan, Italy
Interests: extracellular vesicles; exosomes; neurodegenerative disease
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Brain diseases are very diverse and commonly include neurodegenerative diseases (NDs) such as Alzheimer's disease (AD), Parkinson's disease (PD), Amyotrophic Lateral Sclerosis (ALS), and Frontotemporal Dementia (FTD), developmental and congenital disorders, brain tumors, and a range of other brain-related diseases. The etiology of brain diseases and their genetics are complex and widely studied. In addition to inherited diseases caused by single gene mutations, most brain diseases are characterized by complex interactions between genes and the environment through the interaction of the brain transcriptome and its regulatory networks.

The advent of next-generation sequencing technologies (NGSs) has led to the development of multi-omics, advancing our understanding of complex brain diseases at the genomic, transcriptomic, and epigenetic levels. Genetic analysis of brain diseases thus provides an important means of understanding the molecular relationships involved.

In this Special Issue, we focus on the collection of in-depth analyses, utilizing molecular biology and advanced techniques of multi-omics including whole genome sequencing, single-cell sequencing, DNA methylation, RNA-seq, and other methods such as genome-wide association studies (GWAS) to understand the genetic mechanisms of the key steps in human brain development, as well as the development of the diagnosis and treatment of brain diseases. We welcome your valuable insights, new data or comprehensive reviews.

Dr. Daisy Sproviero
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Current Issues in Molecular Biology is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • brain disorders
  • genetics
  • genomics
  • bioinformatics

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Published Papers (6 papers)

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Review

10 pages, 268 KiB  
Review
Parkinson’s Disease: A Narrative of the Evolving Understanding of the Role of α-Synuclein in Screening
by Alan D. Kaye, Kassady A. Perkinson, Noah J. Spillers, Alexis J. Vega, Caylin J. Roberts, Evan M. Downs, Melissa M. Sheth, David W. McGregor, Jr., Shahab Ahmadzadeh, Jibin Mathew and Sahar Shekoohi
Curr. Issues Mol. Biol. 2024, 46(11), 12746-12755; https://doi.org/10.3390/cimb46110757 - 10 Nov 2024
Viewed by 1232
Abstract
The present investigation aims to examine the role of α-synuclein seed amplification assays for screening Parkinson’s disease. Parkinson’s disease (PD) is a debilitating neurodegenerative disorder caused by the loss of dopaminergic neurons in the midbrain, leading to symptoms such as tremors, bradykinesia, postural [...] Read more.
The present investigation aims to examine the role of α-synuclein seed amplification assays for screening Parkinson’s disease. Parkinson’s disease (PD) is a debilitating neurodegenerative disorder caused by the loss of dopaminergic neurons in the midbrain, leading to symptoms such as tremors, bradykinesia, postural instability, dementia, and depression. It is classified as an α-synucleinopathy related to the role of α-synuclein aggregates in neuron degeneration. Diagnosis relies on clinical assessment without premortem diagnostic tests or imaging, often resulting in delayed detection and impaired symptom management. In this regard, our study explores a screening technique using an amplification assay to measure α-synuclein levels in cerebrospinal fluid, which could potentially identify early pathological changes and improve diagnostic accuracy and patient outcomes. While preliminary results are promising, further studies are needed to evaluate this approach’s accuracy and clinical feasibility. A review of numerous trials demonstrates that α-synuclein seeding amplification assays (SAA) are a highly reliable, sensitive, and specific diagnostic tool for PD. This assay offers a promising opportunity to improve early diagnosis and quantify severity, especially for asymptomatic individuals or those with a family history of PD, allowing for earlier intervention and more effective disease management. In summary, the emerging body of evidence supporting α-synuclein as a biomarker should allow patients with PD to be detected and treated sooner, enhancing patients’ quality of life and potentially changing the disease trajectory. Full article
(This article belongs to the Special Issue Molecular Genetics and Genomics in Brain Disorders)
15 pages, 1322 KiB  
Review
Ghrelin/GHSR System in Depressive Disorder: Pathologic Roles and Therapeutic Implications
by Xingli Pan, Yuxin Gao, Kaifu Guan, Jing Chen and Bingyuan Ji
Curr. Issues Mol. Biol. 2024, 46(7), 7324-7338; https://doi.org/10.3390/cimb46070434 - 10 Jul 2024
Viewed by 1862
Abstract
Depression is the most common chronic mental illness and is characterized by low mood, insomnia, and affective disorders. However, its pathologic mechanisms remain unclear. Numerous studies have suggested that the ghrelin/GHSR system may be involved in the pathophysiologic process of depression. Ghrelin plays [...] Read more.
Depression is the most common chronic mental illness and is characterized by low mood, insomnia, and affective disorders. However, its pathologic mechanisms remain unclear. Numerous studies have suggested that the ghrelin/GHSR system may be involved in the pathophysiologic process of depression. Ghrelin plays a dual role in experimental animals, increasing depressed behavior and decreasing anxiety. By combining several neuropeptides and traditional neurotransmitter systems to construct neural networks, this hormone modifies signals connected to depression. The present review focuses on the role of ghrelin in neuritogenesis, astrocyte protection, inflammatory factor production, and endocrine disruption in depression. Furthermore, ghrelin/GHSR can activate multiple signaling pathways, including cAMP/CREB/BDNF, PI3K/Akt, Jak2/STAT3, and p38-MAPK, to produce antidepressant effects, given which it is expected to become a potential therapeutic target for the treatment of depression. Full article
(This article belongs to the Special Issue Molecular Genetics and Genomics in Brain Disorders)
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37 pages, 809 KiB  
Review
A Synopsis of Biomarkers in Glioblastoma: Past and Present
by Ligia Gabriela Tataranu, Serban Turliuc, Radu Eugen Rizea, Anica Dricu, Oana Alexandru, Georgiana-Adeline Staicu and Amira Kamel
Curr. Issues Mol. Biol. 2024, 46(7), 6903-6939; https://doi.org/10.3390/cimb46070412 - 3 Jul 2024
Cited by 3 | Viewed by 2261
Abstract
Accounting for 48% of malignant brain tumors in adults, glioblastoma has been of great interest in the last decades, especially in the biomolecular and neurosurgical fields, due to its incurable nature and notable neurological morbidity. The major advancements in neurosurgical technologies have positively [...] Read more.
Accounting for 48% of malignant brain tumors in adults, glioblastoma has been of great interest in the last decades, especially in the biomolecular and neurosurgical fields, due to its incurable nature and notable neurological morbidity. The major advancements in neurosurgical technologies have positively influenced the extent of safe tumoral resection, while the latest progress in the biomolecular field of GBM has uncovered new potential therapeutical targets. Although GBM currently has no curative therapy, recent progress has been made in the management of this disease, both from surgical and molecular perspectives. The main current therapeutic approach is multimodal and consists of neurosurgical intervention, radiotherapy, and chemotherapy, mostly with temozolomide. Although most patients will develop treatment resistance and tumor recurrence after surgical removal, biomolecular advancements regarding GBM have contributed to a better understanding of this pathology and its therapeutic management. Over the past few decades, specific biomarkers have been discovered that have helped predict prognosis and treatment responses and contributed to improvements in survival rates. Full article
(This article belongs to the Special Issue Molecular Genetics and Genomics in Brain Disorders)
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17 pages, 642 KiB  
Review
Interplay among Oxidative Stress, Autophagy, and the Endocannabinoid System in Neurodegenerative Diseases: Role of the Nrf2- p62/SQSTM1 Pathway and Nutraceutical Activation
by Federica Armeli, Beatrice Mengoni, Debra L. Laskin and Rita Businaro
Curr. Issues Mol. Biol. 2024, 46(7), 6868-6884; https://doi.org/10.3390/cimb46070410 - 2 Jul 2024
Cited by 12 | Viewed by 1841
Abstract
The onset of neurodegenerative diseases involves a complex interplay of pathological mechanisms, including protein aggregation, oxidative stress, and impaired autophagy. This review focuses on the intricate connection between oxidative stress and autophagy in neurodegenerative disorders, highlighting autophagy as pivotal in disease pathogenesis. Reactive [...] Read more.
The onset of neurodegenerative diseases involves a complex interplay of pathological mechanisms, including protein aggregation, oxidative stress, and impaired autophagy. This review focuses on the intricate connection between oxidative stress and autophagy in neurodegenerative disorders, highlighting autophagy as pivotal in disease pathogenesis. Reactive oxygen species (ROS) play dual roles in cellular homeostasis and autophagy regulation, with disruptions of redox signaling contributing to neurodegeneration. The activation of the Nrf2 pathway represents a critical antioxidant mechanism, while autophagy maintains cellular homeostasis by degrading altered cell components. The interaction among p62/SQSTM1, Nrf2, and Keap1 forms a regulatory pathway essential for cellular stress response, whose dysregulation leads to impaired autophagy and aggregate accumulation. Targeting the Nrf2-p62/SQSTM1 pathway holds promise for therapeutic intervention, mitigating oxidative stress and preserving cellular functions. Additionally, this review explores the potential synergy between the endocannabinoid system and Nrf2 signaling for neuroprotection. Further research is needed to elucidate the involved molecular mechanisms and develop effective therapeutic strategies against neurodegeneration. Full article
(This article belongs to the Special Issue Molecular Genetics and Genomics in Brain Disorders)
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18 pages, 1546 KiB  
Review
Molecular Mechanisms in the Design of Novel Targeted Therapies for Neurodegenerative Diseases
by Ilona Nowak, Marlena Paździor, Robert Sarna and Marcel Madej
Curr. Issues Mol. Biol. 2024, 46(6), 5436-5453; https://doi.org/10.3390/cimb46060325 - 29 May 2024
Viewed by 1915
Abstract
Neurodegenerative diseases are a diverse group of diseases characterized by a progressive loss of neurological function due to damage to nerve cells in the central nervous system. In recent years, there has been a worldwide increase in the expanding associated with increasing human [...] Read more.
Neurodegenerative diseases are a diverse group of diseases characterized by a progressive loss of neurological function due to damage to nerve cells in the central nervous system. In recent years, there has been a worldwide increase in the expanding associated with increasing human life expectancy. Molecular mechanisms control many of the essential life processes of cells, such as replication, transcription, translation, protein synthesis and gene regulation. These are complex interactions that form the basis for understanding numerous processes in the organism and developing new diagnostic and therapeutic approaches. In the context of neurodegenerative diseases, molecular basis refers to changes at the molecular level that cause damage to or degeneration of nerve cells. These may include protein aggregates leading to pathological structures in brain cells, impaired protein transport in nerve cells, mitochondrial dysfunction, inflammatory processes or genetic mutations that impair nerve cell function. New medical therapies are based on these mechanisms and include gene therapies, reduction in inflammation and oxidative stress, and the use of miRNAs and regenerative medicine. The aim of this study was to bring together the current state of knowledge regarding selected neurodegenerative diseases, presenting the underlying molecular mechanisms involved, which could be potential targets for new forms of treatment. Full article
(This article belongs to the Special Issue Molecular Genetics and Genomics in Brain Disorders)
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19 pages, 1748 KiB  
Review
Potential Application of MicroRNAs and Some Other Molecular Biomarkers in Alzheimer’s Disease
by Olga Paprzycka, Jan Wieczorek, Ilona Nowak, Marcel Madej and Barbara Strzalka-Mrozik
Curr. Issues Mol. Biol. 2024, 46(6), 5066-5084; https://doi.org/10.3390/cimb46060304 - 22 May 2024
Cited by 3 | Viewed by 2310
Abstract
Alzheimer’s disease (AD) is the world’s most common neurodegenerative disease, expected to affect up to one-third of the elderly population in the near future. Among the major challenges in combating AD are the inability to reverse the damage caused by the disease, expensive [...] Read more.
Alzheimer’s disease (AD) is the world’s most common neurodegenerative disease, expected to affect up to one-third of the elderly population in the near future. Among the major challenges in combating AD are the inability to reverse the damage caused by the disease, expensive diagnostic tools, and the lack of specific markers for the early detection of AD. This paper highlights promising research directions for molecular markers in AD diagnosis, including the diagnostic potential of microRNAs. The latest molecular methods for diagnosing AD are discussed, with particular emphasis on diagnostic techniques prior to the appearance of full AD symptoms and markers detectable in human body fluids. A collection of recent studies demonstrates the promising potential of molecular methods in AD diagnosis, using miRNAs as biomarkers. Up- or downregulation in neurodegenerative diseases may not only provide a new diagnostic tool but also serve as a marker for differentiating neurodegenerative diseases. However, further research in this direction is needed. Full article
(This article belongs to the Special Issue Molecular Genetics and Genomics in Brain Disorders)
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