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A Journal on Nephrology and Urology

Indexed/Abstracted in: EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 0,536

Frequency: Bi-Monthly

ISSN 0393-2249

Online ISSN 1827-1758


Minerva Urologica e Nefrologica 2002 December;54(4):201-11


The genes and proteins associated with polycystic kidney diseases

Wilson P. D.

Depart­ment of Med­i­cine Mount ­Sinai ­School of Med­i­cine New ­York, NY, USA

Genet­i­cal­ly ­based poly­cys­tic kid­ney dis­eas­es ­include auto­so­mal dom­i­nant (­ADPKD) and reces­sive (­ARPKD) poly­cys­tic kid­ney dis­eas­es, neph­ro­noph­thi­sis and medul­lary cys­tic dis­ease. The PKD1 and PKD2 ­genes respon­sible for ­ADPKD and ­their respec­tive encod­ed pro­teins poly­cys­tin-1 and poly­cys­tin-2 are ­under ­intense ­study and ­clues are devel­op­ing as to ­their func­tion and ­roles in the dis­ease pro­cess. Struc­ture-func­tion anal­y­sis sug­gests ­that poly­cys­tins ­form mul­ti­pro­tein com­plex­es ­with ­focal adhe­sion and ­cell-­cell adher­ens junc­tion pro­teins, ­which ­then ­initiate intra­cel­lu­lar sig­nal­ing ­events cul­mi­nat­ing in reg­u­la­tion of tran­scrip­tion of ­genes con­- trol­ling pro­life­ra­tion and dif­fe­ren­ti­a­tion. ­Although ­less is ­known ­about the ­PKHD-encod­ed fibro­cys­tin respon­sible for ­ARPKD or ­about the NPH1-encod­ed neph­ro­cys­tin respon­sible for neph­ro­noph­thi­sis, it is pro­posed ­that ­they func­tion in the ­same cel­lu­lar path­way involv­ing pro­tein-pro­tein inter­ac­tions, sig­nal trans­duc­tion and reg­u­la­tion of ­gene tran­scrip­tion. ­ADPKD epi­the­lia are ­more adher­ent to col­la­gen, ­less migra­to­ry, ­fail to ­recruit FAK to poly­cys­tin com­plex­es and ­show aber­rant, per­sis­tent expres­sion of the ­fetal ­genes Erb-B2 and β2 sub­unit of NaK-­ATPase ­after ­birth. It is sug­gest­ed ­that the func­tion of the poly­cys­tin com­plex is to act as a key devel­op­men­tal reg­u­la­tor of ­renal ­tubule mor­pho­gen­e­sis.

language: English


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