title: Differential expression profiling between the relative normal and dystrophic muscle tissues from the same LGMD patient.
abstract: BACKGROUND
  Limb-girdle muscular dystrophy (LGMD) is a group of heterogeneous muscular disorders with autosomal dominant and recessive inheritance, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. Although analysis of the defective proteins has shed some light onto their functions implicated in the etiology of LGMD, our understanding of the molecular mechanisms underlying muscular dystrophy remains incomplete.
  
  
  METHODS
  To give insight into the molecular mechanisms of AR-LGMD, we have examined the differentially expressed gene profiling between the relative normal and pathological skeletal muscles from the same AR-LGMD patient with the differential display RT-PCR approach. The research subjects came from a Chinese AR-LGMD family with three affected sisters.
  
  
  RESULTS
  In this report, we have identified 31 known genes and 12 unknown ESTs, which were differentially expressed between the relative normal and dystrophic muscle from the same LGMD patient. The expression of many genes encoding structural proteins of skeletal muscle fibers (such as titin, myosin heavy and light chains, and nebulin) were dramatically down-regulated in dystrophic muscles compared to the relative normal muscles. The genes, reticulocalbin 1, kinectin 1, fatty acid desaturase 1, insulin-like growth factor binding protein 5 (IGFBP5), Nedd4 family interacting protein 1 (NDFIP1), SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2), encoding the proteins involved in signal transduction and gene expression regulation were up-regulated in the dystrophic muscles.
  
  
  CONCLUSIONS
  The functional analysis of these expression-altered genes in the pathogenesis of LGMD could provide additional information for understanding possible molecular mechanisms of LGMD development.
authors.affiliation: National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical School, Beijing, 100005, PR China. dr_zhangyong@126.com
authors.forename: Yong
authors.initials: Y
authors.lastname: Zhang
authors.forename: Jianwei
authors.initials: J
authors.lastname: Ye
authors.forename: Dazhi
authors.initials: D
authors.lastname: Chen
authors.forename: Xinyi
authors.initials: X
authors.lastname: Zhao
authors.forename: Xingjun
authors.initials: X
authors.lastname: Xiao
authors.forename: Sheng
authors.initials: S
authors.lastname: Tai
authors.forename: Wei
authors.initials: W
authors.lastname: Yang
authors.forename: Dahai
authors.initials: D
authors.lastname: Zhu