Tuberous Sclerosis Association

Investigating the relationship between tuberous sclerosis complex and polycystic kidney disease

Tuberous Sclerosis Complex (TSC) or Tuberous Sclerosis, is an important model disease for research into the molecular genetics of tumour growth and the kidneys are often affected by this disorder. The TSA is supporting a 2 year study led by Professor Cheadle at Cardiff University investigating the molecular and cellular basis of the relationship between the proteins coded for by the TSC and polycystic kidney disease genes, and determining how they interact to accelerate the disease process.

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Registered Charity in England and Wales (1039549)





  • CancerCancer
  • Health/WellbeingHealth/Wellbeing
  • Medical ResearchMedical Research


  • Children (3-18)Children (3-18)
  • Women & GirlsWomen & Girls
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Pinning down the exact mechanism of this interaction will ultimately lead to more treatments becoming available for both diseases, thus saving many lives and bringing a better quality of life. Tuberous Sclerosis Complex (TSC) causes growths in various organs, including the brain, heart, skin, lungs and kidneys, although the extent to which individuals are affected is very variable. Disease results from mutation of one of two genes: TSC1 on chromosome 9, or TSC2 which is located beside Pkd1 (one of the genes for polycystic kidney disease, or PKD) on chromosome 16. Patients who have PKD (without TSC) have multiple renal cysts. Kidney cysts are also a feature of TSC and some people have TSC and PKD, generally because they have a mutation which spans both the TSC2 and Pkd1 genes. Something about the way the gene products interact at a cellular level maredly accelerates the process in people with both diseases, leading to early kidney failure in the 2nd or 3rd decade.