Titre : | Evolving genetic heterogeneity of facioscapulohumeral muscular dystrophy |
Revue : | Neurology, 94, 23 |
Auteurs : | Johnson NE ; Ankala A |
Type de document : | Article |
Editeur : | United States, 06/2020 |
Langues: | Anglais |
Mots-clés : | dystrophie musculaire facio-scapulo-humérale ; éditorial ; étiologie |
Résumé : |
Abstract from publisher web site :
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of muscular dystrophy. The disease is named by the initial pattern of weakness, with patients developing facial weakness, scapular winging, and foot drop. As the disorder progresses, other muscles, particularly truncal muscles, are affected and may lead to loss of ambulation. The genetic mechanism has been more clearly elucidated in the past decade. It is clear that the central pathogenic mechanism is epigenetic derepression. A downstream consequence of depression of the D4Z4 units on the long arm of chromosome 4 is expression of DUX4, which is known to only be naturally expressed early in embryogenesis. In FSHD, expression of DUX4 is the key and leads to muscle damage and fibrosis. The most common mechanism resulting in DUX4 derepression is a deletion of multiple integral copies of the D4Z4 repetitive element on chromosome 4.1 What has been evolving is the discovery of other less common causes of the epigenetic derepression, including those in other genes that have a role in chromatin repression (SMCHD1 and DNMT3B). |
Pubmed / DOI : | Pubmed : 32467132 / DOI : 10.1212/WNL.0000000000009580 |
N° Profil MNM : | 2020053 |
En ligne : | http://www.ncbi.nlm.nih.gov/pubmed/32467132 |