Diagnosis of dystrophinopathy by skin biopsy

Abstract

We studied the expression of dystrophin in skin biopsy samples from 19 patients with neuromuscular diseases. Immunohistochemical procedures for dystrophin analyses were performed using monoclonal antibodies for three different domains. Arrector pili muscles, which are smooth muscles in the skin, expressed dystrophin in the patients with limb-girdle muscular dystrophy (5), facioscapulohumeral muscular dystrophy (1), and spinal muscular atrophy (3), and in normal controls (2). The C-terminus of dystrophin was slightly expressed in the patients with Duchenne muscular dystrophy, whereas the rod domain and N-terminus were absent. In one patient with Becker muscular dystrophy, the expression of dystrophin was reduced. The mosaic of dystrophin positive and negative smooth muscle fibers was observed in a manifesting carrier of Duchenne muscular dystrophy. Our results suggest that skin biopsy is very useful for the diagnosis of Duchenne/Becker muscular dystrophy and manifesting carrier of Duchenne muscular dystrophy, and can be performed even at an advanced stage of the disease.

Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study

“…The diagnostic utility of skin biopsy has already been established in dystrophinopathy 15 after promising results in initial small studies. 7,16,17 There are isolated case reports of promising results of skin biopsy in other muscular dystrophies as well. 18 –24…”

Dystrophinopathy Diagnosis Made Easy

“…21 Interestingly, various researchers have localized the same dystrophin isoforms that are found in striated muscle to smooth muscle. [2][3][4][5] The pioneers in this field started working since 1990s. Marbini et al 3,4 studied skin biopsy in dystrophinopathy for the first time.…”

“…In the last decade and half, skin biopsy has emerged as a mode of diagnosis in patients with dystrophinopathy as well as other muscular dystrophies. 2,3,[4][5][6][7][8][9][10][11][12] Skin biopsy is a simple procedure done under local anesthesia. It is cost effective and can also be done sequentially to see therapeutic response.…”

“…Most of them were done with limited sample size in a heterogenous study population. 2,3,[4][5][6][7][8][9][10][11][12] The current study was done with an adequate sample size within a homogenous group comprising only patients with childhood muscular dystrophies to estimate the diagnostic accuracy of skin biopsy in dystrophinopathy within a group of muscular dystrophy patients.…”

Préclinique : Biopsie cutanée

“…Il sera ensuite bien établi que la dystrophine n'était pas seulement présente au niveau de la membrane du muscle, mais qu'elle était aussi décelable au sein de fibroblastes mis en culture. La biopsie cutanée a alors été présentée comme un autre moyen alternatif de vérifier le déficit en dystrophine [3] même si le délai lié à la culture (2 à 3 semaines en moyenne) était de nature à retarder le rendu du résultat. Par ailleurs, l'avantage de ce type d'approche sera surtout le fait d'en révéler l'existence, et d'obtenir, dans des cas très précis et donc rares, une alternative pour dépister des variants pathogènes du gène DMD dont les analyses de routine n'auraient pas permis la détection.…”