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Pharmaceuticals
Special Issues
Drugs for Inherited Diseases
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Drugs for Inherited Diseases

A special issue of Pharmaceuticals (ISSN 1424-8247). This special issue belongs to the section "Biopharmaceuticals".

Deadline for manuscript submissions: closed (15 August 2023) | Viewed by 2247

Special Issue Editors

Prof. Dr. Leonidas A. Phylactou

E-Mail Website
Guest Editor
Chief Executive Officer and Medical Director, The Cyprus Institute of Neurology & Genetics, PO Box 23462, Nicosia 1683, Cyprus
Interests: RNA biology; regulatory RNA molecules; extracellular vesicles; identification of genetic defects in inherited diseases
Special Issues, Collections and Topics in MDPI journals
Dr. Andrie Koutsoulidou

E-Mail Website
Guest Editor
Department of Molecular Genetics, The Cyprus Institute of Neurology& Genetics, PO Box 23462, Nicosia 1683, Cyprus
Interests: muscular dystrophies; gene therapy; biomarkers; miRNAs
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Inherited diseases are genetic conditions that are caused by mutations in one or more genes and propagated through generations. These mutations can be as small as a single nucleotide, as in β-thalassemia, to as large as partial or whole chromosome mutations, such as in Down’s syndrome. These mutations lead to disruptions of a series of cell processes, including transcription, translation or protein folding, and can be either gain-of-function or loss-of-function mutations. In the last few decades, the field of gene therapy has emerged for the treatment of inherited diseases or the treatment of symptoms. Some therapeutic approaches are in the preclinical stage in animal models, some have progressed to human clinical trials and others have been approved. We are currently on the brink of an eruption of new drugs being approved to treat inherited disorders.

This Special Issue aims to cover the recent progress in the development of drugs for inherited disorders through a series of original research articles and reviews from experts in the field. Drugs, including biopharmaceutical compounds and gene therapy tools, against a variety of inherited disorders will be highlighted in this Special Issue.

We invite original research articles and reviews from experts in the field.

Prof. Dr. Leonidas A. Phylactou
Dr. Andrie Koutsoulidou
Guest Editors

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. Pharmaceuticals 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 2900 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

  • gene mutation
  • inherited arrhythmia
  • personalized medicine

Published Papers (2 papers)

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Research

12 pages, 2478 KiB  
Article
Adenylosuccinic Acid Is a Non-Toxic Small Molecule In Vitro and In Vivo
by Cara A. Timpani, Lorna Rasmussen and Emma Rybalka
Pharmaceuticals 2023, 16(10), 1458; https://0-doi-org.brum.beds.ac.uk/10.3390/ph16101458 - 13 Oct 2023
Viewed by 1039
Abstract
Adenylosuccinic acid (ASA) is a small molecule dicarboxylate that could be a strong clinical development candidate for inherited myopathies involving dysregulated purine nucleotide metabolism. Currently, there are no published pharmacokinetic/dynamic or toxicology data available, although 10-year clinical trial data on Duchenne muscular dystrophy [...] Read more.
Adenylosuccinic acid (ASA) is a small molecule dicarboxylate that could be a strong clinical development candidate for inherited myopathies involving dysregulated purine nucleotide metabolism. Currently, there are no published pharmacokinetic/dynamic or toxicology data available, although 10-year clinical trial data on Duchenne muscular dystrophy patients suggests it is a chronically safe drug. In this study, we tested the toxicity of ASA to cultured myoblasts in vitro and its acute systemic toxicity in mice. ASA is a non-toxic small molecule with an LD50 > 5000 mg/kg. Some background necrotic foci in the liver, kidney and gastrointestinal tract were shown that are likely incidental but warrant follow-up sub-/chronic oral exposure studies. Full article
(This article belongs to the Special Issue Drugs for Inherited Diseases)
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15 pages, 2970 KiB  
Article
Osteolytic Bone Loss and Skeletal Deformities in a Mouse Model for Early-Onset Paget’s Disease of Bone with PFN1 Mutation Are Treatable by Alendronate
by Zhu Ling, Hailati Aini, Shuhei Kajikawa, Jumpei Shirakawa, Kunikazu Tsuji, Yoshinori Asou, Hideyuki Koga, Ichiro Sekiya, Akira Nifuji, Masaki Noda and Yoichi Ezura
Pharmaceuticals 2023, 16(10), 1395; https://0-doi-org.brum.beds.ac.uk/10.3390/ph16101395 - 02 Oct 2023
Cited by 1 | Viewed by 939
Abstract
A novel osteolytic disorder due to PFN1 mutation was discovered recently as early-onset Paget’s disease of bone (PDB). Bone loss and pain in adult PDB patients have been treated using bisphosphonates. However, therapeutic strategies for this specific disorder have not been established. Here, [...] Read more.
A novel osteolytic disorder due to PFN1 mutation was discovered recently as early-onset Paget’s disease of bone (PDB). Bone loss and pain in adult PDB patients have been treated using bisphosphonates. However, therapeutic strategies for this specific disorder have not been established. Here, we evaluated the efficiency of alendronate (ALN) on a mutant mouse line, recapitulating this disorder. Five-week-old conditional osteoclast-specific Pfn1-deficient mice (Pfn1-cKOOCL) and control littermates (33 females and 22 males) were injected with ALN (0.1 mg/kg) or vehicle twice weekly until 8 weeks of age. After euthanizing, bone histomorphometric parameters and skeletal deformities were analyzed using 3D μCT images and histological sections. Three weeks of ALN administration significantly improved bone mass at the distal femur, L3 vertebra, and nose in Pfn1-cKOOCL mice. Histologically increased osteoclasts with expanded distribution in the distal femur were normalized in these mice. Geometric bone shape analysis revealed a partial recovery from the distal femur deformity. A therapeutic dose of ALN from 5 to 8 weeks of age significantly improved systemic bone loss in Pfn1-cKOOCL mice and femoral bone deformity. Our study suggests that preventive treatment of bony deformity in early-onset PDB is feasible. Full article
(This article belongs to the Special Issue Drugs for Inherited Diseases)
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