3 The membrane defect in hereditary stomatocytosis

Stewart, Gordon W.

doi:10.1016/s0950-3536(05)80151-9

Cited by 21 publications

(19 citation statements)

References 127 publications

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“…Work on C. elegans MEC-2 has suggested that the integral membrane protein stomatin might serve to link channel and cytoskeleton in the touch-transducing complex (Huang et al 1995;Gu et al 1996). In OHS, the plasma membrane of the red cell shows a catastrophic leakage of univalent cations (Hiebl-Dirschmied et al 1991;Stewart et al 1992;Stewart 1993Stewart , 1997. The lack of stomatin in the red blood cell membrane is associated with the human hemolytic anemia overhydrated hereditary stomatocytosis (OHS).…”

Section: Introductionmentioning

confidence: 99%

Epithelial Na + channels and stomatin are expressed in rat trigeminal mechanosensory neurons

Fricke¹,

Lints²,

Stewart³

et al. 2000

Cell and Tissue Research

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Caenorhabditis elegans MEC-4 and MEC-10 are subunits of the degenerin/epithelial Na + channel (DEG/ENaC) ion channel superfamily thought to be associated with MEC-2 (a stomatin-like protein) in a mechanotransducing molecular complex in specialized touch sensory neurons. A key question is whether analogous molecular complexes in higher organisms transduce mechanical signals. To address this question, we selected mechanoreceptors of the rat vibrissal follicle-sinus complex in the mystacial pad and the trigeminal ganglia for an immunocytochemical and molecular biological study. RT-PCR of poly(A+) mRNA of rat trigeminal ganglia indicated that α-, β-, and γ-ENaC and stomatin mRNA are expressed in rat trigeminal ganglia. Using immunocytochemistry, we found that α-, β-, and γ-ENaC subunits and stomatin are localized in the perikarya of the trigeminal neurons and in a minor fraction of their termination site in the vibrissal follicle-sinus complex, where longitudinal lanceolate endings are immunopositive. We conclude that α-, β-, and γ-ENaC subunits as well as the candidate interacting protein stomatin are coexpressed in a mammalian mechanoreceptor, a location consistent with a possible role in mechanotransduction.

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Section: Introductionmentioning

confidence: 99%

Epithelial Na + channels and stomatin are expressed in rat trigeminal mechanosensory neurons

Fricke¹,

Lints²,

Stewart³

et al. 2000

Cell and Tissue Research

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“…The ouabain‐sensitive NaK pump, which normally maintains the internal [K] inside the cell, had a normal temperature dependence and the loss of K at room temperature could be ascribed to the disparity between these opposing processes on cooling to room temperature. This original ‘familial pseudohyperkalaemia’ condition is now seen to be a part of the group known as ‘hereditary stomatocytosis (HSt) and allied disorders’ (Dacie, 1985), in which red cell pathophysiology can be directly attributed to increases in these passive leaks (Stewart, 1993; Delaunay et al , 1999). It has since been appreciated that many of these frankly anaemic and stomatocytic families can show red cell‐based pseudohyperkalaemia (Coles et al , 1999a).…”

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confidence: 99%

Familial pseudohyperkalaemia Chiswick: a novel congenital thermotropic variant of K and Na transport across the human red cell membrane

et al. 2001

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Summary. Two families with inherited abnormalities in Na and K transport across the red cell membrane are described. Both presented with`pseudohyperkalaemia' as a result of loss of K from the red cells on storage at room temperature. Routine haematology was essentially normal, except for macrocytosis in one family. Studies of the temperature dependence of the passive leak to K showed a novel shoulder pattern with a minimum at 258C, a maximum at 108C, followed by a further fall. As in other cases of red cell-based pseudohyperkalaemia, the abnormal temperature dependence of this`leak' flux could be held to account for the loss of K from the cells at room temperature. These cases represent a novel variant of the temperature dependence of the passive leak of K and Na across the red cell membrane, and can be classified as a mild, non-haemolytic form of the group known as the hereditary stomatocytosis and allied disorders'.

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“…For K at least, this 'passive leak' can be experimentally estimated as that isotopic flux which persists in the presence of the two inhibitors ouabain (for the NaK pump) and bumetanide (for the NaK2CL cotransport system). The molecular nature of this flux is not clear but in normal cells it is largely composed of a process of passive diffusion, showing linear, Fick-type, activation by external [K] (Stewart 1993). In the stomatocytic cells, it seems that this process is simply magnified.…”

Section: Na and K Transport In Normal Human Red Cellsmentioning

confidence: 99%

“…The generic term 'hereditary stomatocytosis and allied syndromes' was coined by Dacie (1985) to encompass a class of dominantly inherited human red cell conditions in which some kind of plasma membrane 'leak' to the univalent cations sodium and potassium is central to the pathophysiology and diagnosis (Stewart 1993;Lux & Palek 1995). The name 'stomatocyte' was coined to describe the erythrocyte morphology of the first case of these diseases (Lock et al 1961) (Figure 1).…”

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confidence: 99%

Temperature effects on cation transport in hereditary stomatocytosis and allied disorders

Coles

Stewart

1999

Int J Experimental Path

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The conditions known as 'hereditary stomatocytosis and allied syndromes' comprise a group of dominantly inherited human haemolytic anaemias characterized by a plasma membrane 'leak' to the univalent cations Na and K, an example of a small but growing group of diseases where pathology can be directly attributed to abnormal membrane transport. A number of case reports in the different variants have alluded to temperature-related phenomena, including loss of K on storage at room temperature (giving 'pseudohyperkalaemia') and lysis of cells when stored in the cold ('cryohydrocytosis'). This review collects together published studies of these temperature effects, which show very major differences in the 'leak' K transport. Two main variations on normal emerge: a 'shallow slope' type, in which the flux shows an abnormally low dependence on temperature in the range 37-20 degrees C, and 'high minimum', in which the minimum in this flux, which occurs in normal cells at 8 degrees C, is shifted up to 23 degrees C. These temperature studies provide a powerful method for phenotypic characterization.

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3 The membrane defect in hereditary stomatocytosis

Cited by 21 publications

References 127 publications

Epithelial Na + channels and stomatin are expressed in rat trigeminal mechanosensory neurons

Epithelial Na + channels and stomatin are expressed in rat trigeminal mechanosensory neurons

Familial pseudohyperkalaemia Chiswick: a novel congenital thermotropic variant of K and Na transport across the human red cell membrane

Temperature effects on cation transport in hereditary stomatocytosis and allied disorders

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