dysferlin


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dysferlin

(dis-fĕr'lin),
A skeletal muscle sarcoplasmic protein that interacts with another skeletal muscle membrane protein, caveolin, to repair damaged cell membranes. Deficiency of dysferlin may be responsible for some forms of muscular dystrophy.

dysferlin

(dĭs-fĕr′lĭn)
A skeletal muscle cell membrane protein. Deficiency or absence of this protein results in several forms of muscular dystrophy.
References in periodicals archive ?
Immunoblotting and immunohistochemical staining confirmed that there was lack of dysferlin expression in skeletal muscles of the patient.
Several LGMD subtypes have recently been identified based upon mutations of certain genes [7-12]; for example, mutations in the calpain 3 and dysferlin genes cause LGMD2A and LGMD2B, respectively.
"However, the dysferlin gene is very large, about six times larger than the alpha-sarcoglycan gene and can't fit into a traditional AAV vector."
Dysferlin Interacts with Annexins A1 and A2 and Mediates Sarcolemmal Wound healing.
Researcher Kevin Campbell and his colleagues identified dysferlin as a key protein in this vital repair mechanism in skeletal muscle.
NADH, succinate dehydrogenase (SDH), and COX/SDH staining were of significant normality, as well as the immunohistochemistry of dystrophin and dysferlin. These muscle biopsy findings helped exclude rarer causes of FSHD-like phenotypes including desmin storage and mitochondrial, structural, and inflammatory myopathies [Figure 3].{Figure 3}
The genes, encoded proteins, and syndrome abbreviations are as follows: NPHS2, podocin; DYSF, dysferlin; NPHS1, nephrin; ACTN4, [[alpha].sub.4]-actinin; CD2AP, CD2-associated protein; TRPC6, transient receptor potential cation channel, member 6; WT1,Wilms tumor 1; PLCE1, phospholipase C[epsilon]1; MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes; PAX2, paired homeobox protein 2; LMX1B, LIM homeobox transcription factor 1[beta]; COQ2, coenzyme Q synthetase 2; COQ6, coenzyme Q synthetase 6; PDSS2, decaprenyl diphosphate synthase; ITGB4, [[beta].sub.4]-integrin; COL4, type IV collagen; GLA, [alpha]-galactosidase A; LAMB2, laminin [[beta].sub.2] chain; ZMPSTE24, zinc metalloproteinase gene.
For example, testing for the dysferlin (DYSF) [4] gene for a subtype of limb girdle muscular dystrophy (LGMD) [5] was performed only on patients presenting with muscle weakness, and all other tests ordered along with DYSF also fell into the "muscle disorder" category.
Immunohistochemistry targeting dystrophin; a-, [sz]-, a-, and a-sarcoglycans; and dysferlin was unremarkable.{Figure 1}
Dysferlin and the plasma membrane repair in muscular dystrophy.
Dysferlin gene mutation spectrum in a large cohort of Chinese patients with dysferlinopathy.
Background: Dysferlinopathy is caused by mutations in the dysferlin (DYSF) gene.