Fshd / opmd / myotonic dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is caused by misexpression of the transcription factor DUX4 from the 4q D4Z4 macrosatellite repeat in skeletal muscle. This is a result of the loss of repressive epigenetic landscape at the repeat either due to repeat contraction (FSHD1) or due to mutations in D4Z4-chromatin associated proteins (FSHD2). While both genetic situations lead to FSHD, a characteristic difference between FSHD1 and FSHD2 is the genome-wide D4Z4 hypomethylation in FSHD2, whereas in FSHD1, D4Z4 hypomethylation is restricted to the contracted allele.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: D. Sikrova, K. Hamanaka, S. Mitsuhashi, H. Masuda, Y. Sekiguchi, A. Sugiyama, K. Shibuya, R. Lemmers, R. Goossens, M. Ogawa, K. Nagao, C. Obuse, S. Noguchi, Y. Hayashi, S. Kuwabara, J. Balog, I. Nishino, S. van der Maarel Source Type: research