Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1

Investigative Ophthalmology & Visual Science
Nelson S WinklerKeith H Baratz

Abstract

RNA toxicity from CTG trinucleotide repeat (TNR) expansion within noncoding DNA of the transcription factor 4 (TCF4) and DM1 protein kinase (DMPK) genes has been described in Fuchs' endothelial corneal dystrophy (FECD) and myotonic dystrophy, type 1 (DM1), respectively. We prospectively evaluated DM1 patients and their families for phenotypic FECD and report the analysis of CTG expansion in the TCF4 gene and DMPK expression in corneal endothelium. FECD grade was evaluated by slit lamp biomicroscopy in 26 participants from 14 families with DM1. CTG TNR length in TCF4 and DMPK was determined by a combination of Gene Scan and Southern blotting of peripheral blood leukocyte DNA. FECD grade was 2 or higher in 5 (36%) of 14 probands, significantly greater than the general population (5%) (P < 0.001). FECD segregated with DM1; six of eight members of the largest family had both FECD and DM1, while the other two family members had neither disease. All DNA samples from 24 subjects, including four FECD-affected probands, were bi-allelic for nonexpanded TNR length in TCF4 (<40 repeats). Considering a 75% prevalence of TCF4 TNR expansion in FECD, the probability of four FECD probands lacking TNR expansion was 0.4%. Neither severity of DM1 ...Continue Reading

References

Nov 1, 1978·Archives of Ophthalmology·J H KrachmerK D Bucher
Jan 1, 1980·Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde·J H KrachmerC W Young
Sep 10, 2010·The New England Journal of Medicine·Keith H BaratzAlbert O Edwards
Jan 20, 2011·Investigative Ophthalmology & Visual Science·S Amer RiazuddinJohn D Gottsch
Jun 11, 2011·Investigative Ophthalmology & Visual Science·Anbupalam ThalamuthuEranga N Vithana
Sep 15, 2011·Arquivos brasileiros de oftalmologia·Carlos Alexandre de A Garcia FilhoLuiz Alberto Soares Melo
Apr 11, 2013·Gene·Ashok KumarShubha R Phadke
Jun 3, 2014·Biochimica Et Biophysica Acta·Giovanni Meola, Rosanna Cardani
Oct 25, 2014·Investigative Ophthalmology & Visual Science·Gargi Gouranga NandaDebasmita Pankaj Alone
Jan 17, 2015·The Journal of Biological Chemistry·Jintang DuEric D Wieben
Feb 28, 2015·Investigative Ophthalmology & Visual Science·V Vinod MoothaW Matthew Petroll
Jul 29, 2015·Investigative Ophthalmology & Visual Science·Masakazu NakanoKeith H Baratz
Aug 11, 2015·Cell Reports·Marianne GoodwinMaurice S Swanson
Mar 31, 2017·Nature Communications·Natalie A AfshariSudha K Iyengar
Aug 12, 2017·Eye·A Campos-RomoJ Fernandez-Ruiz
Aug 19, 2017·Cornea·Julia Furtado HeringerPedro Carlos Carricondo
Sep 9, 2017·Investigative Ophthalmology & Visual Science·V Vinod MoothaXin Gong

❮ Previous
Next ❯

Citations

Jan 25, 2019·Nucleic Acid Therapeutics·Jiaxin HuDavid R Corey
Aug 31, 2019·BMJ Case Reports·Elizabeth A KitsisHoward L Geyer
Sep 4, 2019·European Journal of Ophthalmology·Amparo Gargallo-BenedictoAntonio Miguel Duch-Samper
Jan 15, 2021·Investigative Ophthalmology & Visual Science·Timothy T XuKeith H Baratz
May 22, 2020·Progress in Retinal and Eye Research·Stephan Ong ToneUla V Jurkunas
Aug 1, 2020·Progress in Retinal and Eye Research·Michael P FautschAlice E Davidson
Jun 15, 2021·Disease Models & Mechanisms·Melissa N HinmanKaren Guillemin

❮ Previous
Next ❯

Datasets Mentioned

BETA
GSE86356

Methods Mentioned

BETA
RNASeq

Software Mentioned

GeneScan
Gene Scan
RNASeq

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Investigative Ophthalmology & Visual Science
Elisabetta SoragniJoel M Gottesfeld
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
Daisuke FurutamaToshiaki Hanafusa
© 2022 Meta ULC. All rights reserved