title: Overexpression of MLH-1 and psoriasin genes in cutaneous angiofibromas from tuberous sclerosis complex patients.
abstract: BACKGROUND
  Tuberous sclerosis complex (TSC) is associated with mutations in two likely tumor-suppressor genes (TSC1 and TSC2) and characterized by the development of tumor-like growths (angiofibromas) in a variety of tissues and organs, particularly brain and skin.
  
  
  METHODS
  Employing a DNA-microarray assay, able to detect mRNA production from 1176 different basic genes, we analyzed the gene-expression levels in a cutaneous hamartoma sample from a TSC patient. Altered gene expressions detected by microarray technology were further checked by quantitative reverse-transcriptase polymerase chain reaction (RT-PCR) in the same material and in cutaneous hamartoma samples obtained from five other TSC patients.
  
  
  RESULTS
  The results obtained by the microarray technology in one hamartoma specimen, confirmed by the RT-PCR results obtained in the same material and in five other hamartoma specimens, demonstrated that TSC-related angiofibromas exhibit significant mRNA overexpression of two genes, represented by MLH-1 and psoriasin.
  
  
  CONCLUSIONS
  The overexpression of MLH-1, which codes for a DNA mismatch repair protein, and psoriasin, which codes for a specific chemoattractant factor for CD4+ T cells, implicated in the pathogenesis of inflammatory skin disease, and expressed in excess during abnormal pathways of cell growth, may shed light on the pathogenesis of the proliferative skin lesion.
authors.affiliation: Department of Clinical and Experimental Medicine, Dermatology Section, University of Bologna, Bologna, Italy. dermolap@med.unibo.it
authors.forename: Michelangelo
authors.initials: M
authors.lastname: La Placa
authors.forename: Davide
authors.initials: D
authors.lastname: Gibellini
authors.forename: Tommaso
authors.initials: T
authors.lastname: Bianchi
authors.forename: Annalisa
authors.initials: A
authors.lastname: Patrizi
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D018322:Angiofibroma / Q000209:etiology / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000032:analysis; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D015870:Gene Expression; D020869:Gene Expression Profiling; D006801:Humans; D000070957:MutL Protein Homolog 1; D009687:Nuclear Proteins / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D012333:RNA, Messenger / Q000032:analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D000075023:S100 Calcium Binding Protein A7; D009418:S100 Proteins; D012878:Skin Neoplasms / Q000209:etiology / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000150:complications / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D014408:Biomarkers, Tumor; D002135:Calcium-Binding Proteins; D002352:Carrier Proteins; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D012333:RNA, Messenger; D000075023:S100 Calcium Binding Protein A7; D009418:S100 Proteins; C089242:S100A7 protein, human; D000070957:MutL Protein Homolog 1