Special Issue "Feature Papers"

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A special issue of Diseases (ISSN 2079-9721).

Deadline for manuscript submissions: closed (30 October 2013)

Special Issue Editor

Guest Editor
Prof. Dr. Frank Lee Schwartz

331 Academic Research Center, Department of Specialty Medicine, Ohio University Heritage College of Osteopathic Medicine, Athens, OH 45701, USA
E-Mail
Phone: +1 740 593 2424
Interests: Basic research: inflammation; innate immune response; toll like receptors (TLR); autoimmune disease; toll like receptor antagonists; Clinical research: artificial intelligence; case-based reasoning; insulin pumps; artificial pancreas; socioeconomic stress; Appalachia; chronic disease

Special Issue Information

Submission

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. Papers will be published continuously (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as 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 refereed through a peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diseases is an international peer-reviewed Open Access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. For the first couple of issues the Article Processing Charge (APC) will be waived for well-prepared manuscripts. English correction and/or formatting fees of 250 CHF (Swiss Francs) will be charged in certain cases for those articles accepted for publication that require extensive additional formatting and/or English corrections.

Published Papers (6 papers)

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Review

Open AccessFeature PaperReview Intercalated Cells: More than pH Regulation
Diseases 2014, 2(2), 71-92; doi:10.3390/diseases2020071
Received: 22 January 2014 / Revised: 19 March 2014 / Accepted: 20 March 2014 / Published: 8 April 2014
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Abstract
The renal collecting duct is the nephron segment where the final urine content of acid equivalents and inorganic ions are determined. The role of two different cell types present in this nephron segment has been determined many years ago: principal cells that express
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The renal collecting duct is the nephron segment where the final urine content of acid equivalents and inorganic ions are determined. The role of two different cell types present in this nephron segment has been determined many years ago: principal cells that express the epithelial sodium channel ENaC and aquaporin 2, regulate electrolyte reabsorption, while intercalated cells, which express acid-base transporters and vacuolar H+-ATPase, maintain an apropriate acid-base balance. Recent evidence challenges this historical view. Rather than having independent and non-overlapping functions, the two cell types in the collecting duct appear to functionally cooperate to regulate acid-base and volume homeostasis via complex paracrine and endocrine interplay. This review summarizes these recent findings. Full article
(This article belongs to the Special Issue Feature Papers)
Open AccessReview MeCP2-Related Diseases and Animal Models
Diseases 2014, 2(1), 45-70; doi:10.3390/diseases2010045
Received: 6 December 2013 / Revised: 19 January 2014 / Accepted: 20 January 2014 / Published: 27 January 2014
Cited by 5 | PDF Full-text (252 KB) | HTML Full-text | XML Full-text
Abstract
The role of epigenetics in human disease has become an area of increased research interest. Collaborative efforts from scientists and clinicians have led to a better understanding of the molecular mechanisms by which epigenetic regulation is involved in the pathogenesis of many human
[...] Read more.
The role of epigenetics in human disease has become an area of increased research interest. Collaborative efforts from scientists and clinicians have led to a better understanding of the molecular mechanisms by which epigenetic regulation is involved in the pathogenesis of many human diseases. Several neurological and non-neurological disorders are associated with mutations in genes that encode for epigenetic factors. One of the most studied proteins that impacts human disease and is associated with deregulation of epigenetic processes is Methyl CpG binding protein 2 (MeCP2). MeCP2 is an epigenetic regulator that modulates gene expression by translating epigenetic DNA methylation marks into appropriate cellular responses. In order to highlight the importance of epigenetics to development and disease, we will discuss how MeCP2 emerges as a key epigenetic player in human neurodevelopmental, neurological, and non-neurological disorders. We will review our current knowledge on MeCP2-related diseases, including Rett Syndrome, Angelman Syndrome, Fetal Alcohol Spectrum Disorder, Hirschsprung disease, and Cancer. Additionally, we will briefly discuss about the existing MeCP2 animal models that have been generated for a better understanding of how MeCP2 impacts certain human diseases. Full article
(This article belongs to the Special Issue Feature Papers)
Open AccessReview Pathological Mutations of the Mitochondrial Human Genome: the Instrumental Role of the Yeast S. cerevisiae
Diseases 2014, 2(1), 24-44; doi:10.3390/diseases2010024
Received: 8 November 2013 / Revised: 9 January 2014 / Accepted: 10 January 2014 / Published: 22 January 2014
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Abstract
Mitochondrial diseases, which altogether represent not so rare diseases, can be due to mutations either in the nuclear or mitochondrial genomes. Several model organisms or cell lines are usually employed to understand the mechanisms underlying diseases, yeast being one of them. However, in
[...] Read more.
Mitochondrial diseases, which altogether represent not so rare diseases, can be due to mutations either in the nuclear or mitochondrial genomes. Several model organisms or cell lines are usually employed to understand the mechanisms underlying diseases, yeast being one of them. However, in the case of mutations within the mitochondrial genome, yeast is a major model because it is a facultative aerobe and its mitochondrial genome can be genetically engineered and reintroduced in vivo. In this short review, I will describe how these properties can be exploited to mimic mitochondrial pathogenic mutations, as well as their limits. In particular; pathological mutations of tRNA, cytb, and ATPase genes have been successfully modeled. It is essential to stress that what has been discovered with yeast (molecular mechanisms underlying the diseases, nuclear correcting genes, import of tRNA into mitochondria or compounds from drug screening) has been successfully transferred to human patient lines, paving the way for future therapies. Full article
(This article belongs to the Special Issue Feature Papers)
Open AccessReview Trypanosomatid Aquaporins: Roles in Physiology and Drug Response
Diseases 2014, 2(1), 3-23; doi:10.3390/diseases2010003
Received: 2 December 2013 / Revised: 22 December 2013 / Accepted: 24 December 2013 / Published: 27 December 2013
Cited by 1 | PDF Full-text (1300 KB) | HTML Full-text | XML Full-text
Abstract
In the class Kinetoplastida, we find an order of parasitic protozoans classified as Trypanosomatids. Three major pathogens form part of this order, Trypanosoma cruzi, Trypanosoma brucei, and Leishmania, which are responsible for disease and fatalities in millions of humans worldwide, especially in non-industrialized
[...] Read more.
In the class Kinetoplastida, we find an order of parasitic protozoans classified as Trypanosomatids. Three major pathogens form part of this order, Trypanosoma cruzi, Trypanosoma brucei, and Leishmania, which are responsible for disease and fatalities in millions of humans worldwide, especially in non-industrialized countries in tropical and sub-tropical regions. In order to develop new drugs and treatments, the physiology of these pathogenic protozoans has been studied in detail, specifically the significance of membrane transporters in host parasites interactions. Aquaporins and Aquaglyceroporins (AQPs) are a part of the major intrinsic proteins (MIPs) super-family. AQPs are characterized for their ability to facilitate the diffusion of water (aquaporin), glycerol (aquaglyceroporin), and other small-uncharged solutes. Furthermore, AQPs have been shown to allow the ubiquitous passage of some metalloids, such as trivalent arsenic and antimony. These trivalent metalloids are the active ingredient of a number of chemotherapeutic agents used against certain cancers and protozoan parasitic infections. Recently, the importance of the AQPs not only in osmotic adaptations but also as a factor in drug resistance of the trypanosomatid parasites has been reported. In this review, we will describe the physiological functions of aquaporins and their effect in drug response across the different trypanosomatids. Full article
(This article belongs to the Special Issue Feature Papers)
Figures

Open AccessReview Effect of Cardio-Metabolic Risk Factors Clustering with or without Arterial Hypertension on Arterial Stiffness: A Narrative Review
Diseases 2013, 1(1), 51-72; doi:10.3390/diseases1010051
Received: 20 June 2013 / Revised: 9 November 2013 / Accepted: 14 November 2013 / Published: 20 November 2013
PDF Full-text (299 KB) | HTML Full-text | XML Full-text
Abstract
The clustering of cardio-metabolic risk factors, either when called metabolic syndrome (MetS) or not, substantially increases the risk of cardiovascular disease (CVD) and causes mortality. One of the possible mechanisms for this clustering's adverse effect is an increase in arterial stiffness (AS), and
[...] Read more.
The clustering of cardio-metabolic risk factors, either when called metabolic syndrome (MetS) or not, substantially increases the risk of cardiovascular disease (CVD) and causes mortality. One of the possible mechanisms for this clustering's adverse effect is an increase in arterial stiffness (AS), and in high central aortic blood pressure (CABP), which are significant and independent CVD risk factors. Arterial hypertension was connected to AS long ago; however, other MetS components (obesity, dyslipidaemia, dysglycaemia) or MetS associated abnormalities not included in MetS diagnostic criteria (renal dysfunction, hyperuricaemia, hypercoaglutability, menopause, non alcoholic fatty liver disease, and obstructive sleep apnea) have been implicated too. We discuss the evidence connecting these cardio-metabolic risk factors, which negatively affect AS and finally increase CVD risk. Furthermore, we discuss the impact of possible lifestyle and pharmacological interventions on all these cardio-metabolic risk factors, in an effort to reduce CVD risk and identify features that should be taken into consideration when treating MetS patients with or without arterial hypertension. Full article
(This article belongs to the Special Issue Feature Papers)
Open AccessFeature PaperReview The Nervous System Cytoskeleton under Oxidative Stress
Diseases 2013, 1(1), 36-50; doi:10.3390/diseases1010036
Received: 10 September 2013 / Revised: 30 September 2013 / Accepted: 12 October 2013 / Published: 21 October 2013
PDF Full-text (205 KB) | HTML Full-text | XML Full-text
Abstract
Oxidative stress is a key mechanism causing protein aggregation, cell death and neurodegeneration in the nervous system. The neuronal cytoskeleton, that is, microtubules, actin filaments and neurofilaments, plays a key role in defending the nervous system against oxidative stress-induced damage and is also
[...] Read more.
Oxidative stress is a key mechanism causing protein aggregation, cell death and neurodegeneration in the nervous system. The neuronal cytoskeleton, that is, microtubules, actin filaments and neurofilaments, plays a key role in defending the nervous system against oxidative stress-induced damage and is also a target for this damage itself. Microtubules appear particularly susceptible to damage, with oxidative stress downregulating key microtubule-associated proteins [MAPs] and affecting tubulin through aberrant post-translational modifications. Actin filaments utilise oxidative stress for their reorganisation and thus may be less susceptible to deleterious effects. However, because cytoskeletal components are interconnected through crosslinking proteins, damage to one component affects the entire cytoskeletal network. Neurofilaments are phosphorylated under oxidative stress, leading to the formation of protein aggregates reminiscent of those seen in neurodegenerative diseases. Drugs that target the cytoskeleton may thus be of great use in treating various neurodegenerative diseases caused by oxidative stress. Full article
(This article belongs to the Special Issue Feature Papers)

Planned Papers

The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.

Type of the Paper: Review article
Title: The nervous system cytoskeleton under oxidative stress
Authors: John Gardiner
Affiliations: The School of Biological Sciences, The University of Sydney; E-Mail: jgardiner@mail.usyd.edu.au
Abstract: Oxidative stress is a key mechanism causing protein aggregation, cell death and neurodegeneration in the nervous system. The neuronal cytoskeleton, that is microtubules, actin filaments and neurofilaments, plays a key role in defending the nervous system against oxidative stress-induced damage and is also a target for this damage itself. Microtubules appear particularly susceptible to damage, with oxidative stress downregulating key microtubule-associated proteins (MAPs) and affecting tubulin through aberrant post-translational modifications. Actin filaments utilise oxidative stress for their reorganisation and thus may be less susceptible to deleterious effects. However, because cytoskeletal components are interconnected through cross-linking proteins, damage to one component affects the entire cytoskeletal network. Neurofilaments are phosphorylated under oxidative stress, leading to the formation of protein aggregates reminiscent of those seen in neurodegenerative diseases. Drugs that target the cytoskeleton may thus be of great use in treating various neurodegenerative diseases caused by oxidative stress.

Type of the Paper: Review
Title: Trypanosomatid Aquaporins: role in physiology and drug response
Authors: Jose F. Orta 1, Goutam Mandal 1, Mansi Sharma1, 2, and Rita Mukhopadhyay 1,*
Affiliations: 1 Herbert Wertheim College of Medicine, Florida International University, 11200 SW 8th Street
Miami, FL, 33199, USA; E-Mail: rmukhop@fiu.edu; Tel.: +1-305-348-1472
2 Department of Biological Sciences, Florida International University, 11200 SW 8th Street
Miami, FL, 33199, USA;
Abstract: In the class Kinetoplastida we find an order of parasitic protozoans classified as
Trypanosomatids. Three major pathogens form part of this order, Trypanosoma cruzi, Trypanosoma
brucei, and Leishmania, which are responsible for disease and fatalities in millions of humans
worldwide, especially in non-industrialized countries of tropical and sub-tropical regions. In order
to develop new drugs and treatments, the physiology of these pathogenic protozoans has been studied
in detail, specifically the significance of membrane transporters in host parasites interactions.
Aquaporins and Aquaglyceroporins (AQPs) are a part of the major intrinsic proteins (MIPs) super-
family. AQPs are characterized for their ability to facilitate the diffusion of water (aquaporin),
glycerol (aquaglyceroporin), and other small-uncharged solutes. Furthermore, AQPs have been shown to
allow the ubiquitous passage of some metalloids, such as trivalent arsenic and antimony. These
trivalent metalloids are the active ingredient of a number of chemotherapeutic agents used against
certain cancers and protozoan parasitic infections. Recently, it has been reported the importance of
the AQPs not only in osmotic adaptations, but also as a factor in drug resistance of the
trypanosomatid parasites. In this review, we will describe the physiological functions of aquaporins
and their effect in drug response across the different trypanosomatids.

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