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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 (31 May 2024) | Viewed by 1473

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

Published Papers (2 papers)

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Review

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 426
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
Viewed by 660
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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