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Inherited Disorders in Neurotransmitters: A Molecular, Cellular and Systemic Perspective...
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Inherited Disorders in Neurotransmitters: A Molecular, Cellular and Systemic Perspective 2.0

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (30 June 2023) | Viewed by 2898

Special Issue Editors

Dr. Mariarita Bertoldi

E-Mail Website
Guest Editor
Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy
Interests: aromatic amino acid decarboxylase or dopa decarboxylase; pyridoxal 5’-phosphate; AADC deficiency; molecular and cellular investigations; drug design; bioinformatics; inhibitors
Special Issues, Collections and Topics in MDPI journals
Dr. Patrizia Polverino de Laureto

E-Mail Website
Guest Editor
Department of Pharmaceutical Sciences, CRIBI Biotechnology Centre, University of Padova, 30131 Padova, Italy
Interests: neurodegeneration; alpha-synuclein; amyloid fibril formation and inhibition; limited proteolysis; protein structure
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Monoamine neurotransmitters are essential molecules responsible for mediating neuronal transmission. A common feature among these messengers is the fact that they derive from (or are) amino acids. They include catecholamines (dopamine, adrenaline, noradrenaline), indoleamines (serotonin and tryptamine), amino acids (γ-aminobutyric acid (GABA), glycine, aspartate and glutamate) and acetylcholine. They are responsible for disorders such as Parkinson’s and Alzheimer’s disease, depression and other neuropsychiatric diseases in adults. In children, they are involved in the great majority of developmental disorders such as epilepsy, autism, ADHD, learning and intellectual disabilities, and movement disorders. Mutations in the genes coding for enzymes/proteins related to neurotransmitters synthesis, metabolism and transport lead to a variety of inherited deficiencies, globally referred as neurometabolic disorders. Although some markers for the pathological states due to monoamine neurotransmitters lack or alteration are known, other efforts should be done to understand the molecular and cellular causes in order to find more appropriate systemic approaches. This represents a fundamental question to a full understanding that could be the rationale for the development of new drugs.

This Special Issue entitled “Inherited disorders in neurotransmitters: a molecular, cellular and systemic perspective” addresses this research field and is focused on the research of the molecular cause of monoamine neurotransmitters deficiencies. It will include a selection of research papers and reviews about different aspects of monoamine neurotransmitters deficiency, with particular regard on the molecular and cellular level as well as a wider approach of system biology.

Dr. Mariarita Bertoldi
Dr. Patrizia Polverino de Laureto
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • monoamine neurotransmitters
  • inherited disorders
  • neurometabolic disorders
  • amino acids
  • dopamine
  • serotonin
  • γ-aminobutyric acid

Published Papers (1 paper)

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Review

11 pages, 1054 KiB  
Review
Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population
by Giovanni Bisello and Mariarita Bertoldi
Int. J. Mol. Sci. 2022, 23(19), 11238; https://doi.org/10.3390/ijms231911238 - 23 Sep 2022
Cited by 7 | Viewed by 2063
Abstract
Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease due to mutations in the ddc gene producing AADC, a homodimeric pyridoxal 5′-phosphate-dependent enzyme. The disorder is often fatal in the first decade and is characterized by profound motor impairments and developmental [...] Read more.
Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease due to mutations in the ddc gene producing AADC, a homodimeric pyridoxal 5′-phosphate-dependent enzyme. The disorder is often fatal in the first decade and is characterized by profound motor impairments and developmental delay. In the last two years, there has been a net rise in the number of patients and variants identified, maybe also pushed by the ongoing gene therapy trials. The majority of the identified genotypes are compound heterozygous (about 70%). Efforts are underway to reach early diagnosis, find possible new markers/new fast methods, and predict clinical outcome. However, no clear correlation of genotype-to-phenotype exists to date. Nevertheless, for homozygous patients, reliable results have been obtained using genetic methods combined with available computational tools on crystal structures corroborated by biochemical investigations on recombinant homodimeric AADC variants that have been obtained and characterized in solution. For these variants, the molecular basis for the defect has been suggested and validated, since it correlates quite well with mildness/severity of the homozygous phenotype. Instead, prediction for compound heterozygous patients is more difficult since complementation effects could happen. Here, by analyzing the existing literature on compound heterozygosity in AADC deficiency and other genetic disorders, we highlight that, in order to assess pathogenicity, the measurement of activity of the AADC heterodimeric variant should be integrated by bioinformatic, structural, and functional data on the whole protein constellation theoretically present in such patients. A wider discussion on symptomatic heterozygosity in AADC deficiency is also presented. Full article
(This article belongs to the Special Issue Inherited Disorders in Neurotransmitters: A Molecular, Cellular and Systemic Perspective 2.0)
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