Background: A number of mutations in the VSX1 and SOD1 genes have been reported to be associated with keratoconus (KC), however the results from different studies are controversial. In this study, we conducted the genotyping of common polymorphisms [VSX1: D144E, H244R, R166W, G160D; SOD1: intronic 7-base deletion (c.169 + 50 delTAAACAG)], in a case-control sample panel of the Greek population.
Materials And Methods: A case-control panel, with 33 KC patients and 78 healthy controls, were surveyed. DNA from each individual was tested for the VSX1: D144E, H244R, R166W, G160D and SOD1: intronic 7-base deletion (c.169 + 50 delTAAACAG) polymorphisms by direct sequencing.
Results: We observed no polymorphisms of the VSX1 gene in the case-control panel. Concerning the SOD1 intronic 7-base deletion (c.169 + 50 delTAAACAG), our findings suggest that heterozygous carriers are over-represented among KC cases compared to healthy controls (p = 0.002).
Conclusions: We cannot confirm the previously reported association of the polymorphism in the VSX1 gene with KC. Our results suggest a possible causative role of SOD1 in the pathogenesis of KC. Further studies are required to identify other important genetic factors involved in the pathogenesis and progression of KC.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3109/13816810.2013.843712 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Functional consequences of familial ALS-associated SOD1 in neuronal and muscle cells.
FASEB J
February 2024
Department of Biotechnology and Research, Sir Ganga Ram Hospital, Delhi, India.
Amyotrophic lateral sclerosis is a fatal neurodegenerative disorder characterized by progressive skeletal muscle denervation and loss of motor neurons that results in muscle atrophy and eventual death due to respiratory failure. Previously, we identified a novel SOD1 variation in a familial ALS case. In this study, we examined the functional consequences of SOD1 overexpression in the mouse motor neuron cell line (NSC-34).
View Article and Find Full Text PDFGenetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.
J Neurol
April 2024
Department of Human Neurosciences, Rare Neuromuscular Diseases Centre, Sapienza University, Viale Dell'Università 30, 00185, Rome, Italy.
Introduction: Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease with an elusive etiology. While environmental factors have been considered, familial ALS cases have raised the possibility of genetic involvement. This genetic connection is increasingly evident, even in patients with sporadic ALS.
View Article and Find Full Text PDFNegative Selection on a SOD1 Mutation Limits Canine Degenerative Myelopathy While Avoiding Inbreeding.
Genome Biol Evol
January 2024
Genetic Testing Section, Anicom Pafe Inc., Kanagawa, Japan.
Several hundred disease-causing mutations are currently known in domestic dogs. Breeding management is therefore required to minimize their spread. Recently, genetic methods such as direct-to-consumer testing have gained popularity; however, their effects on dog populations are unclear.
View Article and Find Full Text PDFIntercellular transmission of pathogenic proteins in ALS: Exploring the pathogenic wave.
Neurobiol Dis
August 2023
Department of Pathology and Laboratory Medicine, University of California, Irvine, Irvine, CA, USA; Department of Neurology, Duke University School of Medicine, Durham, NC 27710, USA; Departments of Neurobiology and Behavior, University of California, Irvine, Irvine, CA 92697, USA; Department of Neurology, University of California, Irvine, Irvine, CA, USA; Department of Biological Chemistry, University of California, Irvine, Irvine, CA, USA; UCI Center for Neurotherapeutics, University of California, Irvine, Irvine, CA 92697, USA. Electronic address:
In patients with amyotrophic lateral sclerosis (ALS), disease symptoms and pathology typically spread in a predictable spatiotemporal pattern beginning at a focal site of onset and progressing along defined neuroanatomical tracts. Like other neurodegenerative diseases, ALS is characterized by the presence of protein aggregates in postmortem patient tissue. Cytoplasmic, ubiquitin-positive aggregates of TDP-43 are observed in approximately 97% of sporadic and familial ALS patients, while SOD1 inclusions are likely specific to cases of SOD1-ALS.
View Article and Find Full Text PDFGeneration and analysis of innovative genomically humanized knockin , (TDP-43), and mouse models.
iScience
December 2021
UK MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) is a fatal neurodegenerative disorder, and continued innovation is needed for improved understanding and for developing therapeutics. We have created next-generation knockin mouse models, by replacing the mouse genomic region of , (TDP-43), and , with their human orthologs, preserving human protein biochemistry and splicing with exons and introns intact. We establish a new standard of large knockin allele quality control, demonstrating the utility of indirect capture for enrichment of a genomic region of interest followed by Oxford Nanopore sequencing.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!