Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy

Patrizia Sabatelli, Luciano Merlini, Alberto Di Martino, Vittoria Cenni and Cesare Faldini
Additional contact information
Patrizia Sabatelli: Unit of Bologna, CNR-Institute of Molecular Genetics “Luigi Luca Cavalli-Sforza”, 40136 Bologna, Italy
Luciano Merlini: Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy
Alberto Di Martino: Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy
Vittoria Cenni: Unit of Bologna, CNR-Institute of Molecular Genetics “Luigi Luca Cavalli-Sforza”, 40136 Bologna, Italy
Cesare Faldini: Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy

IJERPH, 2022, vol. 19, issue 3, 1-13

Abstract: Ullrich congenital muscular dystrophy (UCMD) is a severe form of muscular dystrophy caused by the loss of function of collagen VI, a critical component of the muscle-tendon matrix. Magnetic resonance imaging of UCMD patients’ muscles shows a peculiar rim of abnormal signal at the periphery of each muscle, and a relative sparing of the internal part. The mechanism/s involved in the early fat substitution of muscle fiber at the periphery of muscles remain elusive. We studied a muscle biopsy of the rectus femoris/deep fascia (DF) of a 3-year-old UCMD patient, with a homozygous mutation in the COL6A2 gene. By immunohistochemical and ultrastructural analysis, we found a marked fatty infiltration at the interface of the muscle with the epimysium/DF and an atrophic phenotype, primarily in fast-twitch fibers, which has never been reported before. An unexpected finding was the widespread increase of interstitial cells with long cytoplasmic processes, consistent with the telocyte phenotype. Our study documents for the first time in a muscle biopsy the peculiar pattern of outside-in muscle degeneration followed by fat substitution as already shown by muscle imaging, and an increase of telocytes in the interstitium of the deep fascia, which highlights a potential involvement of this structure in the pathogenesis of UCMD.

Keywords: collagen VI; Ullrich congenital muscular dystrophy; fatty infiltration; muscle fiber atrophy; telocytes (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
References: View complete reference list from CitEc
Citations:

Downloads: (external link)
https://www.mdpi.com/1660-4601/19/3/1252/pdf (application/pdf)
https://www.mdpi.com/1660-4601/19/3/1252/ (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:gam:jijerp:v:19:y:2022:i:3:p:1252-:d:731520

Access Statistics for this article

IJERPH is currently edited by Ms. Jenna Liu

More articles in IJERPH from MDPI
Bibliographic data for series maintained by MDPI Indexing Manager ().