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Life
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Feature Paper in Genetics and Genomics
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Feature Paper in Genetics and Genomics

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Genetics and Genomics".

Deadline for manuscript submissions: 30 June 2025 | Viewed by 2034

Special Issue Editor

Prof. Dr. Lluís Ribas de Pouplana

E-Mail Website
Guest Editor
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain
Interests: genetic code; genetic translation; codon usage; proteome control; tRNAs; ribosomes; proteome quality control in cell biology and disease; structure-function studies of protein-RNA interactions; biomedicine and biotechnology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue will be a collection of high-quality papers from editorial board members, guest editors, and leading researchers invited by the editorial office and the Editor-in-Chief. Both original research articles and comprehensive review papers in the field of "Genetics and Genomics" are welcome.

Prof. Dr. Lluís Ribas de Pouplana
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. Life 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

  • DNA
  • RNA
  • gene discovery and function
  • gene expression
  • population genetics
  • genome projects
  • comparative and functional genomics
  • medical genetics
  • complex traits
  • chromosome biology
  • epigenomics and epigenetics
  • statistical genetics and methodology
  • genomic assay technology
  • sequencing technologies
  • bioinformatics

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

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Research

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14 pages, 580 KiB  
Article
Association of the Val66Met Polymorphism of the BDNF Gene with the Depression in a Mexican Population with Multiple Sclerosis
by Brenda Viridiana Rabago-Barajas, Miguel Ángel Macías-Islas, Ana Miriam Saldaña-Cruz, Jesús Emmanuel Arana-Yepez, Eva Maria Olivas-Flores and Adriana Aguayo-Arelis
Life 2025, 15(2), 213; https://doi.org/10.3390/life15020213 - 31 Jan 2025
Cited by 1 | Viewed by 830
Abstract
Multiple sclerosis (MS) is a chronic, autoimmune pathology that affects the nervous system. It is characterized by inflammatory lesions that cause axonal damage with neurodegeneration. The signs and symptoms present in this pathology include among others, psychiatric disorders. In MS, depression is the [...] Read more.
Multiple sclerosis (MS) is a chronic, autoimmune pathology that affects the nervous system. It is characterized by inflammatory lesions that cause axonal damage with neurodegeneration. The signs and symptoms present in this pathology include among others, psychiatric disorders. In MS, depression is the most frequent psychiatric disorder, with prevalence levels of 40 to 60%; to date, the cause is unknown. The brain-derived neurotrophic factor (BDNF) is a neurotrophin related to neuroplasticity. The single-nucleotide polymorphism Val66Met, encoded by the BDNF gene, has been associated with various effects, including the presence of neuropsychiatric disorders. The purpose of our study was to evaluate the association between the BDNF Val66Met polymorphism and depression in MS patients. Methods: Study design, cases, and controls: Mexican mestizo MS patients. Cases: Patients diagnosed with depression. Controls: Patients without depression diagnosis. Measurements: For depression, the Beck Depression Inventory; for polymorphism, real-time PCR. Results: No statistically significant differences were found in sociodemographic and disease variables between the case and control groups. qPCR analysis showed that 68% of the participants were Val/Val wild-type homozygotes, 29% were Val/Met polymorphism heterozygotes, and 3% were Met/Met polymorphism homozygotes. The presence of the BDNF gene rs6265 polymorphism was associated with a 5.6-fold increase in the probability of depression in the cases compared to the controls. Conclusions: The BDNF Val66Met Polymorphism is associated with depression in Mexican mestizo patients diagnosed with MS. Full article
(This article belongs to the Special Issue Feature Paper in Genetics and Genomics)
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Other

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9 pages, 964 KiB  
Brief Report
Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in MYD88 Gene: A Founder Effect?
by Roberta Romano, Francesca Cillo, Laura Grilli, Alessio Ciaccio, Lorenzo Bufalo, Elisabetta Toriello, Antonio De Rosa, Carmen Rosano, Emilia Cirillo, Giancarlo Blasio, Marika Comegna, Carmela Di Domenico, Giuseppe Castaldo, Claudio Pignata and Giuliana Giardino
Life 2025, 15(1), 20; https://doi.org/10.3390/life15010020 - 28 Dec 2024
Viewed by 813
Abstract
MyD88 deficiency is a rare inborn error of immunity (IEI) characterized by susceptibility to pyogenic infections without overt signs of inflammation. Half of the reported patients belong to Roma descent, an itinerant ethnic group living mostly in Europe, with an increased risk of [...] Read more.
MyD88 deficiency is a rare inborn error of immunity (IEI) characterized by susceptibility to pyogenic infections without overt signs of inflammation. Half of the reported patients belong to Roma descent, an itinerant ethnic group living mostly in Europe, with an increased risk of childhood mortality due to limited access to healthcare services. We describe three unrelated patients from the Campania region in Italy with MyD88 deficiency, all belonging to Roma descent and displaying severe or recurrent infections in early infancy. They underwent a comprehensive immunological work-up including targeted next-generation sequencing for IEIs that identified a homozygous pathogenic in-frame deletion c.157_159del p.(Glu53del) in MYD88 gene, already described in this ethnic group, suggesting a founder effect. A high level of alert should be kept in patients of Roma ethnicity with early onset severe infections. Moreover, being associated with increased Immunoglobulin E (IgE) levels, this condition should be included in the differential diagnosis of Hyper-IgE syndromes. Full article
(This article belongs to the Special Issue Feature Paper in Genetics and Genomics)
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