On new hypotheses about autosomal dominant polycystic kidney disease type 1.
The purpose of this paper is to suggest a partial explanation of the aetiology of autosomal dominant polycystic kidney disease type 1, one of the most common genetic diseases in humans. To this aim we put forward a number of interconnected ideas, based on a number of experimental evidences and plausibility arguments. We stress the major role played by the instability of some genomic tandem repeats, together with the DNA structures known as quadruplexes, the pseudogenes and the gene conversion. The model we propose can be considered a multi-hit generalization of the well-known two-hit model, a generalization that could well have a validity also outside the specific context. We finally provide an indication of the likely guilty DNA segment for the above disease, and we propose a possible simple experimental line of action aimed to confirm or disproof our suggestion.
Bersani
E
E
EuroBioPark c/o Parco Scientifico, Università di Roma Tor Vergata, Italy.
De Fonzo
V
V
Aluffi-Pentini
F
F
Parisi
V
V
D017668:Age of Onset; D020132:Anticipation, Genetic; D001483:Base Sequence; D015321:Gene Rearrangement; D006801:Humans; D018598:Minisatellite Repeats; D008957:Models, Genetic; D017354:Point Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*