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Biomedicines
Special Issues
Hereditary Metabolic Diseases: The Biological Clock and Innovative Therapies
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Hereditary Metabolic Diseases: The Biological Clock and Innovative Therapies

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Gene and Cell Therapy".

Deadline for manuscript submissions: closed (31 January 2024) | Viewed by 7069

Special Issue Editors

Prof. Dr. Gianluigi Mazzoccoli

E-Mail Website
Guest Editor
Department of Medical Sciences, Division of Internal Medicine and Chronobiology Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy
Interests: chronobiology; chronogenetics; metabolism; autophagy; oxidative stress; inflammation; aging
Prof. Dr. Roberto Tarquini

E-Mail Website
Guest Editor
Division of Internal Medicine I, San Giuseppe Hospital, 50053 Empoli, Italy
Interests: metabolic diseases; chronobiology; liver diseases; hart diseases; kidney diseases; aging

Special Issue Information

Dear Colleagues,

Hereditary metabolic diseases constitute a variety of congenital pathologies caused by genetic defects that have an impact on metabolism, especially within the cells of the liver. There are hundreds of hereditary metabolic diseases, caused by genetic defects of various kinds. These disorders often lead to the accumulation of substances that are toxic or that interfere with normal cellular/tissue function, or reduce the ability to synthesize essential compounds. These diseases can be life threatening or substantially debilitating, and although some dietary or enzyme-replacement therapies are available, many sustain severely unmet medical needs and often progress to organ failure, with a strong impact on life expectancy. The activity of the metabolic pathways shows circadian fluctuations, and they are rhythmically guided by the biological clock. New medical treatment strategies and advanced therapies represent an important and urgent need. Advanced therapies are innovative treatment tools and strategies that offer new opportunities for the treatment of inherited metabolic diseases for which conventional treatments have proved inadequate. Advanced therapies contain genetic material, stem cells, or tissue-engineered modified cells/tissues to be used to repair, regenerate, or replace human tissue. These therapies offer the possibility of personalizing the treatment and reducing the side effects.

For this Special Issue, original research articles and reviews are welcome. Research areas may include (but are not limited to) the following: hereditary metabolic diseases, the biological clock, innovative therapies, stem-cell therapy, regenerative medicine, and cell/tissue engineering.

We look forward to receiving your contributions.

Prof. Dr. Gianluigi Mazzoccoli
Prof. Dr. Roberto Tarquini
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. Biomedicines 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 2600 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

  • inborn errors of metabolism
  • biological clock
  • circadian rhythm
  • innovative therapies
  • regenerative medicine
  • biotechnological drugs
  • gene therapy
  • stem cells
  • cell reprogramming

Published Papers (3 papers)

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Research

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19 pages, 948 KiB  
Article
Circadian Genes Expression Patterns in Disorders Due to Enzyme Deficiencies in the Heme Biosynthetic Pathway
by Maria Savino, Claudio Carmine Guida, Maria Nardella, Emanuele Murgo, Bartolomeo Augello, Giuseppe Merla, Salvatore De Cosmo, Antonio Fernando Savino, Roberto Tarquini, Francesco Cei, Filippo Aucella and Gianluigi Mazzoccoli
Biomedicines 2022, 10(12), 3198; https://doi.org/10.3390/biomedicines10123198 - 9 Dec 2022
Cited by 2 | Viewed by 1706
Abstract
Heme is a member of the porphyrins family of cyclic tetrapyrroles and influences various cell processes and signalling pathways. Enzyme deficiencies in the heme biosynthetic pathway provoke rare human inherited metabolic diseases called porphyrias. Protein levels and activity of enzymes involved in the [...] Read more.
Heme is a member of the porphyrins family of cyclic tetrapyrroles and influences various cell processes and signalling pathways. Enzyme deficiencies in the heme biosynthetic pathway provoke rare human inherited metabolic diseases called porphyrias. Protein levels and activity of enzymes involved in the heme biosynthetic pathway and especially 5′-Aminolevulinate Synthase 1 are featured by 24-h rhythmic oscillations driven by the biological clock. Heme biosynthesis and circadian pathways intermingle with mutual modulatory roles. Notably, heme is a ligand of important cogs of the molecular clockwork, which upon heme binding recruit co-repressors and inhibit the transcription of numerous genes enriching metabolic pathways and encoding functional proteins bringing on crucial cell processes. Herein, we assessed mRNA levels of circadian genes in patients suffering from porphyrias and found several modifications of core clock genes and clock-controlled genes expression, associated with metabolic and electrolytic changes. Overall, our results show an altered expression of circadian genes accompanying heme biosynthesis disorders and confirm the need to deepen the knowledge of the mechanisms through which the alteration of the circadian clock circuitry could take part in determining signs and symptoms of porphyria patients and then again could represent a target for innovative therapeutic strategies. Full article
(This article belongs to the Special Issue Hereditary Metabolic Diseases: The Biological Clock and Innovative Therapies)
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Review

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14 pages, 914 KiB  
Review
Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency
by Berna Seker Yilmaz and Paul Gissen
Biomedicines 2023, 11(8), 2227; https://doi.org/10.3390/biomedicines11082227 - 8 Aug 2023
Cited by 4 | Viewed by 2668
Abstract
Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder with high unmet needs, as current dietary and medical treatments may not be sufficient to prevent hyperammonemic episodes, which can cause death or neurological sequelae. To date, liver transplantation is the only [...] Read more.
Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder with high unmet needs, as current dietary and medical treatments may not be sufficient to prevent hyperammonemic episodes, which can cause death or neurological sequelae. To date, liver transplantation is the only curative choice but is not widely available due to donor shortage, the need for life-long immunosuppression and technical challenges. A field of research that has shown a great deal of promise recently is gene therapy, and OTCD has been an essential candidate for different gene therapy modalities, including AAV gene addition, mRNA therapy and genome editing. This review will first summarise the main steps towards clinical translation, highlighting the benefits and challenges of each gene therapy approach, then focus on current clinical trials and finally outline future directions for the development of gene therapy for OTCD. Full article
(This article belongs to the Special Issue Hereditary Metabolic Diseases: The Biological Clock and Innovative Therapies)
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12 pages, 1540 KiB  
Review
Hereditary Transthyretin-Related Amyloidosis: Genetic Heterogeneity and Early Personalized Gene Therapy
by Ketty Dugo, Francesca Bruno, Valentina Sturiale, Desiree Brancato, Salvatore Saccone and Concetta Federico
Biomedicines 2022, 10(10), 2394; https://doi.org/10.3390/biomedicines10102394 - 25 Sep 2022
Cited by 2 | Viewed by 2173
Abstract
Point mutations of the transthyretin (TTR) gene are related with hereditary amyloidosis (hATTR). The number of people affected by this rare disease is only partially estimated. The real impact of somatic mosaicism and other genetic factors on expressivity, complexity, progression, and [...] Read more.
Point mutations of the transthyretin (TTR) gene are related with hereditary amyloidosis (hATTR). The number of people affected by this rare disease is only partially estimated. The real impact of somatic mosaicism and other genetic factors on expressivity, complexity, progression, and transmission of the disease should be better investigated. The relevance of this rare disease is increasing and many efforts have been made to improve the time to diagnosis and to estimate the real number of cases in endemic and non-endemic areas. In this context, somatic mosaicism should be better investigated to explain the complexity of the heterogeneity of the hATTR clinical features, to better estimate the number of new cases, and to focus on early and personalized gene therapy. Gene therapy can potentially improve the living conditions of affected individuals and is one of the central goals in research on amyloidosis related to the TTR gene, with the advantage of overcoming liver transplantation as the sole treatment for hATTR disease. Full article
(This article belongs to the Special Issue Hereditary Metabolic Diseases: The Biological Clock and Innovative Therapies)
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