Possible Diverse Roles of Fukutin: More Than Basement Membrane Formation?

Yamamoto, Tomoko; Hiroi, Atsuko; Kato, Yoichiro; Shibata, Noriyuki; Ōsawa, Makiko; Kobayashi, Makio

doi:10.5772/30205

Cited by 1 publication

(2 citation statements)

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“…The glycosylated area of α-DG existed outside the cell membrane works as a receptor for extracellular matrix proteins like laminin [6][7][8]. Thus, the glycosylation of α-DG is indispensable for formation of the basement membrane.…”

Section: Introductionmentioning

confidence: 99%

“…In the fetal FCMD brain, irregular disruptions of the glia limitans are observed. Neuronal tissues overmigrate from defects of glia limitans (Figure 1), which is considered to be the main cause of cobblestone lissencephaly [7,8]. Hypoglycosylation of α-DG by malfunction of fukutin makes the basement membrane fragile and this gives rise to partial defects in the glia limitans.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Ocular Pathology of Fukuyama Congenital Muscular Dystrophy

Yamamoto¹,

Kato²,

Shibata³

2019

Muscular Dystrophies

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Fukuyama congenital muscular dystrophy (FCMD) is one of the congenital muscular dystrophies, showing central nervous system (CNS) and ocular lesions, in addition to muscular dystrophy. It is included in α-dystroglycanopathy, an entity of muscular dystrophies caused by reduced glycosylation of α-dystroglycan (α-DG). Studies of ocular lesions are not so many, compared with those of the muscle and CNS. Clinical ocular manifestations are myopia, strabismus, retinal detachment, and so on. Since the retina has a structure partly resembling the cerebral cortex, pathological findings similar to those found in the brain have been reported. The major observation considered to be involved in the pathogenesis of retinal lesions is abnormalities in the internal limiting membrane formed by Müller cells, which is corresponding to the glia limitans formed by astrocytes in the brain. Fukutin, responsible for FCMD, and α-DG are expressed in Müller cells. Moreover, fukutin may be involved in synaptic functions of retinal neurons through the glycosylation of α-DG. In this chapter, ocular lesions of fetal and child FCMD patients are presented, especially focusing on pathological findings of the retina, and functions of fukutin are discussed.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%