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Personalized Medicine for Neuromuscular Atrophy

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A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Mechanisms of Diseases".

Deadline for manuscript submissions: closed (30 September 2022) | Viewed by 13130

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Special Issue Editor

Dr. Piera Smeriglio

E-Mail Website
Guest Editor

Center of Research in Myology, Sorbonne University, UMRS974, INSERM-AIM, Paris,France
Interests: neuromuscular disease; epigenetics; DNA demethylation; TET enzymes

Special Issue Information

Dear Colleagues,

The field of neuromuscular disorders has made great advances in the last decade, owing to the discovery of key mechanisms attributed to the pathogenesis and many innovative tools which facilitate its diagnosis and molecular characterization. Together, this has culminated in various treatment strategies for diseases such as Spinal Muscular Atrophy and Duchenne Muscular Dystrophy. However, many questions remain unresolved, including the contribution of other tissues to the disease onset and progression, the mechanism to explain the heterogeneity of disease manifestation and the variability in drug response. This Special Issue aims to embody the recent findings covering from basic science to therapeutic strategy to address the current challenges in the molecular characterization of neuromuscular diseases and their therapeutic approaches. We are encouraging submissions focusing on, but not limited to, emerging technologies and approaches to reveal aberrant molecular mechanisms and novel advancements to ameliorate the state-of-art therapies.

Dr. Piera Smeriglio
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. Journal of Personalized Medicine 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

Neuromuscular disorders
Motor neuron
Skeletal muscle
Atrophy
Multisystemic contribution
Heterogeneity
Therapy
Molecular mechanisms
Novel technology

Published Papers (3 papers)

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Research

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14 pages, 1953 KiB

Open AccessArticle

Prediction of Sarcopenia Using Multiple Biomarkers of Neuromuscular Junction Degeneration in Chronic Obstructive Pulmonary Disease

by Asima Karim, Tahir Muhammad and Rizwan Qaisar

J. Pers. Med. 2021, 11(9), 919; https://0-doi-org.brum.beds.ac.uk/10.3390/jpm11090919 - 15 Sep 2021

Cited by 23 | Viewed by 2422

Abstract

Patients with chronic obstructive pulmonary disease (COPD) present with an advanced form of age-related muscle loss or sarcopenia. Among multiple pathomechanisms of sarcopenia, neuromuscular junction (NMJ) degradation may be of primary relevance. We evaluated the circulating biomarkers of NMJ degradation, including c-terminal agrin fragment -22 (CAF22), brain-derived neurotrophic factor (BDNF), and glial cell line-derived neurotrophic factor (GDNF) as predictors of sarcopenia in COPD during pulmonary rehabilitation (PR). Male, 61–77-year-old healthy controls and patients of COPD (n = 77–84/group) were recruited for measurements of circulating CAF22, BDNF, and GDNF levels. Functional assessment and measurements of plasma biomarkers were performed at diagnosis and following six months of PR. CAF22 levels were elevated while BDNF and GDNF levels were reduced in COPD patients at diagnosis, which were incompletely restored to normal levels following PR. These biomarkers showed varying degrees of associations with indexes of sarcopenia and functional recovery during PR. Logistic regression revealed that the combined use of three biomarkers enhanced the diagnostic accuracy of sarcopenia better than single biomarkers. Altogether, measurements of plasma CAF22, BDNF, and GDNF may be helpful for the accurate diagnosis of sarcopenia and functional capacity in COPD during PR. Full article

(This article belongs to the Special Issue Personalized Medicine for Neuromuscular Atrophy)

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Review

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17 pages, 1204 KiB

Open AccessReview

Neuro-Ophthalmological Findings in Friedreich’s Ataxia

by Pilar Rojas, Rosa de Hoz, Manuel Cadena, Elena Salobrar-García, José A. Fernández-Albarral, Inés López-Cuenca, Lorena Elvira-Hurtado, José L. Urcelay-Segura, Juan J. Salazar, José M. Ramírez and Ana I. Ramírez

J. Pers. Med. 2021, 11(8), 708; https://0-doi-org.brum.beds.ac.uk/10.3390/jpm11080708 - 23 Jul 2021

Cited by 8 | Viewed by 4974

Abstract

Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by a severe autosomal recessive genetic disorder of the central nervous (CNS) and peripheral nervous system (PNS), affecting children and young adults. Its onset is before 25 years of age, with mean ages of onset and death between 11 and 38 years, respectively. The incidence is 1 in 30,000–50,000 persons. It is caused, in 97% of cases, by a homozygous guanine-adenine-adenine (GAA) trinucleotide mutation in the first intron of the frataxin (FXN) gene on chromosome 9 (9q13–q1.1). The mutation of this gene causes a deficiency of frataxin, which induces an altered inflow of iron into the mitochondria, increasing the nervous system’s vulnerability to oxidative stress. The main clinical signs include spinocerebellar ataxia with sensory loss and disappearance of deep tendon reflexes, cerebellar dysarthria, cardiomyopathy, and scoliosis. Diabetes, hearing loss, and pes cavus may also occur, and although most patients with FRDA do not present with symptomatic visual impairment, 73% present with clinical neuro-ophthalmological alterations such as optic atrophy and altered eye movement, among others. This review provides a brief overview of the main aspects of FRDA and then focuses on the ocular involvement of this pathology and the possible use of retinal biomarkers. Full article

(This article belongs to the Special Issue Personalized Medicine for Neuromuscular Atrophy)

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33 pages, 1127 KiB

Open AccessReview

The Skeletal Muscle Emerges as a New Disease Target in Amyotrophic Lateral Sclerosis

by Oihane Pikatza-Menoio, Amaia Elicegui, Xabier Bengoetxea, Neia Naldaiz-Gastesi, Adolfo López de Munain, Gorka Gerenu, Francisco Javier Gil-Bea and Sonia Alonso-Martín

J. Pers. Med. 2021, 11(7), 671; https://0-doi-org.brum.beds.ac.uk/10.3390/jpm11070671 - 16 Jul 2021

Cited by 18 | Viewed by 4512

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder that leads to progressive degeneration of motor neurons (MNs) and severe muscle atrophy without effective treatment. Most research on ALS has been focused on the study of MNs and supporting cells of the central nervous system. Strikingly, the recent observations of pathological changes in muscle occurring before disease onset and independent from MN degeneration have bolstered the interest for the study of muscle tissue as a potential target for delivery of therapies for ALS. Skeletal muscle has just been described as a tissue with an important secretory function that is toxic to MNs in the context of ALS. Moreover, a fine-tuning balance between biosynthetic and atrophic pathways is necessary to induce myogenesis for muscle tissue repair. Compromising this response due to primary metabolic abnormalities in the muscle could trigger defective muscle regeneration and neuromuscular junction restoration, with deleterious consequences for MNs and thereby hastening the development of ALS. However, it remains puzzling how backward signaling from the muscle could impinge on MN death. This review provides a comprehensive analysis on the current state-of-the-art of the role of the skeletal muscle in ALS, highlighting its contribution to the neurodegeneration in ALS through backward-signaling processes as a newly uncovered mechanism for a peripheral etiopathogenesis of the disease. Full article

(This article belongs to the Special Issue Personalized Medicine for Neuromuscular Atrophy)

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