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Molecular and Genetic Mechanism of Cataracts
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Molecular and Genetic Mechanism of Cataracts

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 (31 December 2021) | Viewed by 9064

Special Issue Editor

Dr. Elena Vallespín

E-Mail Website
Guest Editor
Molecular Ophthalmology Section, Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain
Interests: ophtalmogenetics; human genetics; next generation sequencing; rare diseases; genomics

Special Issue Information

Dear Colleagues,

Non-syndromic bilateral congenital cataract is the most prevalent cause of reversible congenital blindness worldwide. It is estimated that in approximately 50% of patients suffering from it, it has a genetic origin.

Congenital cataract was the first autosomal disease to be genetically mapped in humans. About one third of isolated congenital cataracts are inherited; most inherited cataracts are autosomal dominant with full penetration, while variable expression, autosomal recessive, and X-linked inheritance patterns are less common. There are more than 100 genes associated with cataract.

The prevalence varies from 2.2 to 2.49 cases out of 10,000 live births in developed countries and about 13.6 out of 10,000 cases in the developing countries of the world.

Despite surgical treatment of congenital cataract, the expected visual acuities are usually low, and most patients require specific visual adaptation.

This Special Issue explores the multidisciplinary approach to the molecular basis of congenital bilaternal cataracts, from bench to beadside, and from molecular and bioinformatic studies using new generation technologies to patient diagnosis.

Dr. Elena Vallespín
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. 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

  • congenital cataracts
  • blindness
  • congenital blindness
  • genomics
  • next-generation sequencing
  • bioinformatics
  • rare diseases

Published Papers (4 papers)

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11 pages, 3074 KiB  
Article
Molecular Mechanisms of Succinimide Formation from Aspartic Acid Residues Catalyzed by Two Water Molecules in the Aqueous Phase
by Tomoki Nakayoshi, Koichi Kato, Shuichi Fukuyoshi, Ohgi Takahashi, Eiji Kurimoto and Akifumi Oda
Int. J. Mol. Sci. 2021, 22(2), 509; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22020509 - 06 Jan 2021
Cited by 5 | Viewed by 2414
Abstract
Aspartic acid (Asp) residues are prone to nonenzymatic isomerization via a succinimide (Suc) intermediate. The formation of isomerized Asp residues is considered to be associated with various age-related diseases, such as cataracts and Alzheimer’s disease. In the present paper, we describe the reaction [...] Read more.
Aspartic acid (Asp) residues are prone to nonenzymatic isomerization via a succinimide (Suc) intermediate. The formation of isomerized Asp residues is considered to be associated with various age-related diseases, such as cataracts and Alzheimer’s disease. In the present paper, we describe the reaction pathway of Suc residue formation from Asp residues catalyzed by two water molecules using the B3LYP/6-31+G(d,p) level of theory. Single-point energies were calculated using the MP2/6-311+G(d,p) level of theory. For these calculations, we used a model compound in which an Asp residue was capped with acetyl and methylamino groups on the N- and C-termini, respectively. In the aqueous phase, Suc residue formation from an Asp residue was roughly divided into three steps, namely, iminolization, cyclization, and dehydration, with the activation energy estimated to be 109 kJ mol−1. Some optimized geometries and reaction modes in the aqueous phase were observed that differed from those in the gas phase. Full article
(This article belongs to the Special Issue Molecular and Genetic Mechanism of Cataracts)
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9 pages, 1326 KiB  
Brief Report
Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts
by Abdullah Y. Hassan, Sairah Yousaf, Moran R. Levin, Osamah J. Saeedi, Saima Riazuddin, Janet L. Alexander and Zubair M. Ahmed
Int. J. Mol. Sci. 2022, 23(1), 240; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms23010240 - 27 Dec 2021
Cited by 3 | Viewed by 1991
Abstract
Congenital cataracts (CC) are responsible for approximately one-tenth of childhood blindness cases globally. Here, we report an African American family with a recessively inherited form of CC. The proband demonstrated decreased visual acuity and bilateral cataracts, with nuclear and cortical cataracts in the [...] Read more.
Congenital cataracts (CC) are responsible for approximately one-tenth of childhood blindness cases globally. Here, we report an African American family with a recessively inherited form of CC. The proband demonstrated decreased visual acuity and bilateral cataracts, with nuclear and cortical cataracts in the right and left eye, respectively. Exome sequencing revealed a novel homozygous variant (c.563A > G; p.(Asn188Ser)) in GJA3, which was predicted to be pathogenic by structural analysis. Dominantly inherited variants in GJA3 are known to cause numerous types of cataracts in various populations. Our study represents the second case of recessive GJA3 allele, and the first report in African Americans. These results validate GJA3 as a bona fide gene for recessively inherited CC in humans. Full article
(This article belongs to the Special Issue Molecular and Genetic Mechanism of Cataracts)
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7 pages, 1143 KiB  
Brief Report
Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract
by Priya Jarwar, Shakeel Ahmed Sheikh, Yar Muhammad Waryah, Ikram Uddin Ujjan, Saima Riazuddin, Ali Muhammad Waryah and Zubair M. Ahmed
Int. J. Mol. Sci. 2021, 22(19), 10655; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms221910655 - 30 Sep 2021
Cited by 3 | Viewed by 1747
Abstract
Hereditary congenital cataract (HCC) is clinically and genetically heterogeneous. We investigated HCC that segregates in three inbred families (LUCC03, LUCC16, and LUCC24). Ophthalmological examinations revealed cataracts with variability related to the age of onset segregating in a recessive manner in these families. Exome [...] Read more.
Hereditary congenital cataract (HCC) is clinically and genetically heterogeneous. We investigated HCC that segregates in three inbred families (LUCC03, LUCC16, and LUCC24). Ophthalmological examinations revealed cataracts with variability related to the age of onset segregating in a recessive manner in these families. Exome sequencing of probands identified a novel homozygous c.2710delG;p.(Val904Cysfs*36) EPHA2 variant in LUCC03 and a known homozygous c.2353G>A;p.(Ala785Thr) EPHA2 variant in the other two recessive families. EPHA2 encodes a transmembrane tyrosine kinase receptor, which is primarily involved in membrane-transport, cell-cell adhesion, and repulsion signaling processes. Computational structural modeling predicts that substitution of a threonine for an alanine p.(Ala785Thr) results in the formation of three new hydrogen bonds with the neighboring residues, which causes misfolding of EPHA2 in both scenarios. Insights from our study will facilitate counseling regarding the molecular and phenotypic landscape of EPHA2-related HCC. Full article
(This article belongs to the Special Issue Molecular and Genetic Mechanism of Cataracts)
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9 pages, 1504 KiB  
Case Report
Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases
by Ferran Celma Nos, Gonzalo Hernández, Xènia Ferrer-Cortès, Ines Hernandez-Rodriguez, Begoña Navarro-Almenzar, José Luis Fuster, Mar Bermúdez Cortés, Santiago Pérez-Montero, Cristian Tornador and Mayka Sanchez
Int. J. Mol. Sci. 2021, 22(11), 5451; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22115451 - 21 May 2021
Cited by 6 | Viewed by 2182
Abstract
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder is produced by mutations in the iron responsive element (IRE) located in the 5′ untranslated regions (UTR) [...] Read more.
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder is produced by mutations in the iron responsive element (IRE) located in the 5′ untranslated regions (UTR) of the light ferritin (FTL) gene. A canonical IRE is a mRNA structure that interacts with the iron regulatory proteins (IRP1 and IRP2) to post-transcriptionally regulate the expression of proteins related to iron metabolism. Ferritin L and H are the proteins responsible for iron storage and intracellular distribution. Mutations in the FTL IRE abrogate the interaction of FTL mRNA with the IRPs, and de-repress the expression of FTL protein. Subsequently, there is an overproduction of ferritin that accumulates in serum (hyperferritinemia) and excess ferritin precipitates in the lens, producing cataracts. To illustrate this disease, we report two new families affected with hereditary hyperferritinemia-cataract syndrome with previous known mutations. In the diagnosis of congenital bilateral cataracts, HHCS should be taken into consideration and, therefore, it is important to test serum ferritin levels in patients with cataracts. Full article
(This article belongs to the Special Issue Molecular and Genetic Mechanism of Cataracts)
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