2. Disease Areas
  3. Musculoskeletal Disease
  4. Muscle Disease
  5. Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy is a common form of muscular dystrophy that presents clinically with progressive weakness of the facial, scapular, and humeral muscles, with later involvement of the trunk and lower extremities. While typically inherited as autosomal dominant, facioscapulohumeral muscular dystrophy (FSHD) has a complex genetic and epigenetic etiology that has only recently been well described. The most prevalent form of the disease, FSHD1, is associated with the contraction of the D4Z4 microsatellite repeat array located on a permissive 4qA chromosome. D4Z4 contraction allows epigenetic derepression of the array, and possibly the surrounding 4q35 region, allowing misexpression of the toxic DUX4 transcription factor encoded within the terminal D4Z4 repeat in skeletal muscles. The less common form of the disease, FSHD2, results from haploinsufficiency of the SMCHD1 gene in individuals carrying a permissive 4qA allele, also leading to the derepression of DUX4, further supporting a central role for DUX4.

Facioscapulohumeral Muscular Dystrophy (4):

Cat. No. Product Name CAS No. Purity Chemical Structure
  • HY-177971
    Braxlosiran
    Braxlosiran, one of the components of the AOC Delpacibart braxlosiran (HY-177566), is composed of a siRNA targeting DUX4 (dual homologous box protein) and SMCC linker (HY-42360). Abnormal expression of the DUX4 protein leads to changes in gene expression in muscle cells, and these changes are associated with the loss of muscle function in facioscapulohumeral muscular dystrophy (FSHD).
    Braxlosiran
  • HY-177971B
    FAM labled Braxlosiran
    FAM labled Braxlosiranis a FAM labled Braxlosiran.
    FAM labled Braxlosiran
  • HY-177971A
    Braxlosiran scrambled negative control
    Braxlosiran scrambled negative control is the sequence scrambled negative control of Braxlosiran.
    Braxlosiran scrambled negative control
  • HY-177971C
    Cy3 labled Braxlosiran
    Cy3 labled Braxlosiran is a Cy3 labled Braxlosiran.
    Cy3 labled Braxlosiran