An overexpression of fibroblast growth factor (FGF) and FGF receptor 4 in a severe clinical phenotype of facioscapulohumeral muscular dystrophy
✍ Scribed by Akiko Saito; Itsuro Higuchi; Masanori Nakagawa; Mineki Saito; Yuichi Uchida; Masaru Inose; Takefumi Kasai; Takahito Niiyama; Hidetoshi Fukunaga; Kimiyoshi Arimura; Mitsuhiro Osame
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 771 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0148-639X
No coin nor oath required. For personal study only.
✦ Synopsis
We evaluated the expression of a select panel of growth factors and their receptors, including fibroblast growth factor 1 (FGF-1), fibroblast growth factor 2 (FGF-2), platelet-derived growth factor (PDGF), FGF receptor 1 (FGF-R1), FGF receptor 3 (FGF-R3), FGF receptor 4 (FGF-R4), PDGF receptor ␣ (PDGF-R␣), PDGF receptor  (PDGF-R), and heparan sulfate proteoglycan (HSPG), in muscle biopsy specimens from nine facioscapulohumeral muscular dystrophy (FSHD) patients using immunohistochemistry. Two cases of Duchenne-type muscular dystrophy (DMD), two of Becker-type muscular dystrophy (BMD), and one of limb-girdle-type muscular dystrophy (LGMD) were also investigated. Widespread immunostaining for FGF-1 and FGF-2 on the sarcolemma and overexpression of FGF-R4 in endomysial and perimysial connective tissue were seen in one patient with a severe clinical phenotype of FSHD who had respiratory failure. Standard histochemistry in this patient revealed marked interstitial fibrosis and lobulated fibers. The overexpression of FGF and FGF-R4 in this severe FSHD case may be associated with the muscle fibrosis and disease severity.