Chemistry Reference
In-Depth Information
Figure 22.4
Dystroglycan
O
- mannosylation.
by the numerous
O
- Man and
O
- GalNAc glycans
chains decorating
-Dystroglycan interacts at the cell membrane
with
- dystroglycan. However, the
exact structure of these glycan chains is largely
unclear.
α
α
-dystroglycan and with the sarcoglycan
complex. The interactions of
β
- dystroglycan with
the extracellular protein laminin-2 are mediated
α
Table 22.2
Diseases of
O
-mannosylation (adapted from a fi gure made by Jane Hewitt, University of Nottingham).
Name
Gene
Walker - Warburg
POMT1/POMT2
Muscle - eye - brain
POMGNT1
Fukuyama congenital
muscular dystrophy
FKTN
Congenital muscular
dystrophy (type 1D)
LARGE
Congenital muscular
dystrophy (type 1C)
FKRP
Limb - girdle
muscular dystrophy
brain cortex, and in the organization and function of the retina. Depending on the
severity of the
O
-mannosylation defect, the degree of muscular dystrophy, neuro-
nal involvement and retinal degeneration will be more or less pronounced. This
variable severity and organ involvement leads to the defi nition of different clinical
entities, i.e., different diseases with distinct names. From the most to the least
