ACTN4

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ACTN4

A gene on chromosome 14q24.1 that encodes an actin-binding bundling protein expressed in various cells, playing different roles in each. In non-muscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane; skeletal, cardiac and smooth muscle isoforms are localised to the Z-disc and analogous dense bodies, where they help anchor myofibrillar actin filaments.

Molecular pathology
The non-muscle, alpha-actinin isoform of ACTN4 is concentrated in the cytoplasm, and may be involved in metastasis; ACTN4  mutations have been associated with focal and segmental glomerulosclerosis.
References in periodicals archive ?
The top five types of PGN were IgAN, MsPGN, MN, MCD, and FSGS and the top four types of SGN were LN, HSP-GN, HBV-GN, and DN.
And their parents have now set up a Facebook page, Rubi's FSGS Journey, in the hope of raising awareness of the disease.
FSGS in the USA9, Brazil and India10 is having an increasing trend in particular, making this the leading cause of primary glomerulopathy(PGN).
An allograft biopsy showed ten normal glomeruli with negative immunohistology, and early recurrent primary FSGS was deemed to be the most likely diagnosis.
Soluble urokinase-type plasminogen activator receptor (suPAR) has recently been suggested as a potential circulating factor in FSGS [9-13].
Heavy proteinuria in patients without edema or hypoalbuminemia is more likely to be due to secondary FSGS.
FSGS was found in 2 patients who underwent biopsy because of increased serum creatinine level after cyclosporine treatment.
Mesangial proliferative, membranoproliferative, and collapsing FSGS seem to be the patterns that are most frequently seen in association with kala-azar nephropathy, the severity of which can vary from mononuclear interstitial infiltration to a severe, diffuse, inflammatory infiltrate consisting of macrophages, lymphocytes and plasma cells.
Mutational analysis of seven podocyte genes (NPHS1, NPHS2, WT1, CD2AP, ACTN4, TRPC6 and PLCE1) in 19 non-familial childhood-onset, steroid resistant, biopsy-proven FSGS patients revealed variants of NPHS1, NPHS2, WT1 and CD2AP that could be the cause of the disease in four subjects (21%).
The spectrum of FSGS encompasses disease entities characterized by podocyte injury with foot process effacement leading to the characteristic histological pattern of obliteration of glomerular capillaries by extracellular matrix (ECM) accumulation [3].
This variant of FSGS was first described by Weiss in 1986, who found these lesions in HIV-negative patients (1-3).