Dear Dr Nitin Udar and colleagues,
Good day. I am Jeff Ng, postgraduate from University of Malaya, Malaysia. Currently, we are studying the genetics of keratoconus in Malaysia. One of our scope is to check the differences of SOD1 gene expression level between keratoconus patients and non-keratoconus individuals.
We come across keratoconus-related journal articles published back in 2006 and 2009 by you and your colleagues and we found it interesting as the effect of the intronic deletion affects the pattern of gene expression in keratoconus patients.
Therefore, we would like to clarify or inquire of the following:
1) Is there any similarity in terms of expression level between your patients and controls (i.e. as in intensity of amplicon bands)?
2) Is there any possibility that a person with keratoconus would have a negative result in restriction digestion method (i.e. the usage of HpyCh4III enzyme) but have a positive result in the rt-PCR gene expression method?
3) Would you be willing to provide us with characterized controls (i.e. positive and negative controls) for us to validate our results?
Thanks. Hope to hear from you soon.
Regards,
Ng Jun Bin (Jeff)
Biomedical Science Department,
2nd Floor, Block R,
Faculty of Medicine, University of Malaya
50603 Kuala Lumpur, MALAYSIA.
Article SOD1 Haplotypes in Familial Keratoconus
I'm not sure I know the answer to your question, but you might find it here: https://sciencescape.org/field/130810199 . It's a list of all the papers about SOD1 ranked by impact, and you can explore it graphically.
Thanks for the information, Aubrey. Will look through the database thoroughly. In the meantime, we'll be waiting for their answers too.
I have studied by in situ hybridization during mouse development the expression of the different mRNAs encoding the diverse SODs but i have not published these results. I can look at the section and see what is the expression in the eyes . But I have not the results on adult mouse or Human eyes.....
I am a member of the Board of Molecular Vision and this article might be of interest for you
Mol Vis. 2013 Dec 8;19:2501-7. eCollection 2013.
Analysis of superoxide dismutase 1, dual-specificity phosphatase 1, and transforming growth factor, beta 1 genes expression in keratoconic and non-keratoconic corneas.
Saee-Rad S1, Raoofian R, Mahbod M, Miraftab M, Mojarrad M, Asgari S, Rezvan F, Hashemi H.
Author information
Abstract
PURPOSE:
To quantitatively assess the superoxide dismutase 1 (SOD1), transforming growth factor, beta 1 (TGF-β1), and dual-specificity phosphatase 1 (DUSP1) messenger ribonucleic acid (mRNA) expression levels as the main intracellular reactive oxygen species neutralizers, wound healing mediators, and immunomodulators (respectively) in keratoconic (KCN) and non-KCN corneas.
METHODS:
Total RNA was extracted from normal and keratoconic cultured corneal stromal fibroblasts. Semiquantitative reverse transcriptase polymerase chain reaction (RT-PCR) was used to measure the relative expression levels of mRNAs of the SOD1, TGF-β1, and DUSP1 genes.
RESULTS:
The mRNA expression of TGF-β1 and DUSP1 was augmented in the KCN corneas (three- and fivefold, respectively; both p
Thanks for the much input, Dr. Marc. We will try to search on the papers for additional information regarding SOD1 gene expression in keratoconus patients.
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