Dr. Sumant Shah Pilot Study

Dr. Sumant Shah Pilot Study

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Role of DNA Methylation in Urolithiasis

A research study was performed by Muljibhai Patel Urological Hospital, Nadiad, India, sponsored by Heart Foundation and Research Institute which revealed the genetic differences between high risk renal stone formers and non-stone formers. The study has identified genes with diagnostic potential to differentiate the two categories, and identified targetable genes for drug development to stop recurrent stone formation. This is the first study worldwide, where genome-wide RNA expression and DNA methylation were studied in renal tissue to discover the genetic alterations involved in recurrent stone formation. 

The basis of this study is that family members of stone formers consuming the same diet, and living in the same environmental conditions do not all have a propensity for renal stones. This observation made the investigators at MPUH believe that there may be extraneous factors which lead to genetic alterations for renal stone formation.

To find out the faulty RNA expression in renal stone patients, 57773 transcripts for gene expression assays were studied in kidney biopsies of stone patients, and these were compared with kidney biopsies of stone-free patients. It was found that “18” gene expressions were high and “23” gene expressions were low in stone formersas compared to control.

The findings of our study have a potential to triage high-risk stone formers and offer them solutions from symptoms of significant morbidity and loss of productivity. They would also enable drug treatments for stone disease after categorizing the genetic alterations. A larger study in this regard is underway.