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

Abstract

The gold standard diagnostic test for Ullrich congenital muscular dystrophy (UCMD) is molecular testing for COL6 mutation. The facility for genetic testing is sparingly available and it is usually diagnosed by muscle biopsy. The latter is an invasive procedure requiring expertise and sedation. Skin biopsy has shown promise as a simpler diagnostic modality. Eleven and 7 cases, respectively, of phenotypically suspected Ullrich congenital muscular dystrophy and dystrophinopathy underwent simultaneous skin and muscle biopsies, which were subjected to hematoxylin and eosin (H&E) and immunohistochemistry staining for collagen VI and dystrophin 1, 2, and 3. Of the 8 and 5 muscle biopsy-confirmed cases of Ullrich congenital muscular dystrophy and dystrophinopathy, 6 Ullrich congenital muscular dystrophy and 5 dystrophinopathy cases showed absent and preserved COL6 staining, respectively, in the skin biopsy. Skin biopsy as a diagnostic option has shown encouraging results in Ullrich congenital muscular dystrophy. These should be evaluated in larger studies.

A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients

“…It should be noted that fibroblasts have often been used as models for other cell types in pathological contexts in which a given biopsy specimen (in our case, ventricular cardiomyocytes) cannot be collected (Bononi et al, 2017;Chakrabarty et al, 2017;Jimenez-Mallebrera et al, 2006;Mak et al, 2011).…”

“…PTPC activity is significantly related to RI in STEMI patients As validated by multiple studies (Bononi et al, 2017;Chakrabarty et al, 2017;Jimenez-Mallebrera et al, 2006;Mak et al, 2011), skin-biopsy-derived fibroblasts can be used for functional analyses in multiple disease settings, especially when obtaining specific biopsy specimens is not possible. Indeed, processing heart samples or myocytes for research purposes is challenging, even considering the continual development of semi-invasive or percutaneous procedures in the treatment of acute infarction.…”

Similarities between fibroblasts and cardiomyocytes in the study of the permeability transition pore

“…The most widespread, already used for mitochondrial disorders or neurodegenerative pathologies where human specimens are rare or impossible to be taken, is skin biopsy‐derived fibroblasts. 2 , 3 , 4 …”

“…Giampaolo Morciano 1,2 Gaia Pedriali 2 Elisa Mikus 3 Paolo Cimaglia 2 Simone Calvi 3 Rita Pavasini 4 Alberto Albertini 3 Roberto Ferrari 2 Mariusz R. Wieckowski 5 Carlotta Giorgi 1 Gianluca Campo 4 Paolo Pinton…”

“…The obstacles to developing an appropriate cell model to study a given pathology are not limited to the cardiovascular field. Several studies, including mitochondrial disorders and neurodegenerative diseases, 2 , 3 , 4 have adopted alternative and more feasible experimental models, such as skin‐biopsy‐derived fibroblasts, to perform functional analyses on a pathological phenotype.…”