scholarly journals Pure Smooth Endoplasmic Reticulum (SER) Inclusions in Granulocytes of MYH9-Related Disorder Patients

Blood ◽  
2021 ◽  
Vol 138 (Supplement 1) ◽  
pp. 4212-4212
Author(s):  
Núria Pujol-Moix ◽  
Eduardo Muñiz-Diaz ◽  
Ignacio Español
Keyword(s):  
Endoplasmic Reticulum ◽  
Conflicts Of Interest ◽  
Smooth Endoplasmic Reticulum ◽  
Variable Intensity ◽  
Giant Platelets ◽  
Related Disorder ◽  
Different Types ◽  
Fechtner Syndrome ◽  
New Type ◽  
Different Characteristics

Abstract MYH9-related disorders are a group of disorders (May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome) characterized by macrothrombocytopenia and ribosome inclusions in granulocytes. They are caused by mutations in the MYH9 gene and, depending on the location of the mutation, are associated with extrahematological pathologies (sensorineural hearing loss, progressive nephropathy, presenile cataracts) of variable intensity. The inclusions are formed by single and clustered ribosomes and are partially surrounded by segments of rough endoplasmic reticulum (RER). Typical inclusions in May-Hegglin anomaly are spindle-shaped, well-defined, and contain longitudinal filaments. Those found in Sebastian and Fechter syndromes are round or oval, have no filaments and, sometimes, show cross-striated arrangement of the ribosome aggregates. When reviewing the electron micrographs of the granulocyte inclusions of 10 patients with MYH9-related disorders previously published (Pujol-Moix et al. Haematologica 2004;89:330-337) we observed a special type of inclusion not described in the article. This inclusion has the typical appearance of smooth endoplasmic reticulum (SER) clusters, that is, a meshwork of branching tubules of SER without limiting membranes and no other structures such as ribosomes or RER. In 3 of the patients reviewed, in addition to the typical inclusions of MYH9-related disorder, some granulocytes with SER clusters were observed. These clusters were rounded or oval in shape and, when present, were 1 or 2 per cell (Fig. 1). The patients who presented granulocyte SER clusters are those identified as B4, C6 and D8 in the Haematologica article and are briefly described in Table 1. The patients presenting with SER clusters showed different characteristics such as age, bleeding, platelet counts, and proportion of giant platelets. Therefore, we cannot relate the presence of SER clusters to any clinical or biological characteristic of patients. It should be noticed that we did not find SER clusters in any patient with May-Hegglin anomaly. However, the small number of cases studied does not allow any conclusions to be drawn. SER clusters have been described in different types of cells such as hepatocytes or kidney tubular epitelial cells (Ghadially FN. Ultrastructural Pathology of the Cell and Matrix. Butterwords. London, 1988, pp 422-427). Normal granulocytes (neutrophils, eosinophils, and basophils) besides their own specific granules, also contain other general subcellular structures, including dispersed SER membranes. However, SER membranes forming clusters in these cells have not been previously described. In addition, SER clusters do not seem to correspond to evolved forms of typical MYH9 inclusions, for example by degranulation of the RER, based on the observations that typical inclusions show abundant ribosomes but few RER segments, no appreciable ribosomes are observed in the SER clusters, and the morphology of the tubules forming the SER and RER is different. We suggest that SER clusters could be considered a new type of inclusion in MYH9-related disorders. Figure 1 Figure 1. Disclosures No relevant conflicts of interest to declare.

Platelet Pathology in GATA-1 Dyserythropoietic Macrothrombocytopenia.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 1102-1102
Author(s):  
James G. White ◽  
David P. Steensma ◽  
William L. Nichols
Keyword(s):  
Endoplasmic Reticulum ◽  
Unique Feature ◽  
Mononuclear Cells ◽  
Smooth Endoplasmic Reticulum ◽  
Structural Variations ◽  
Peripheral Blood Mononuclear ◽  
Surface Attachment ◽  
Giant Platelets ◽  
Platelet Disorder ◽  
Tubular Inclusions

Abstract Germline mutations in the X-linked hematopoietic transcription factor, GATA-1, have been associated with dyserythropoietic anemia (DEA), macrothrombocytopenia (MTP), and congenital erythropoietic porphyria. Recently, morphological features suggestive of the Gray Platelet Syndrome (GPS) were described in a pedigree with a germline R216Q GATA-1 mutation (Blood106:6a, 2005). The present study has evaluated platelets (Pl) in the electron microscope from members of a previously described pedigree (Blood98:2681–2688, 2001) with GATA-1 G208S, MTP, and dyserythropoiesis without anemia, for whom detailed platelet morphology studies have not been reported. The presence of a hemizygous GATA-1 mutation was confirmed by conventional fluorescent dye chemistry sequencing of DNA from patient peripheral blood mononuclear cells. Their Pl revealed wide variations in size, shape, internal and external structure. Some normal sized and giant Pl contained usual numbers of alpha granules and dense bodies, while most of the large cells were hypogranular. Some contained no membrane systems or organelles. Others were filled with masses of dense tubular system (DTS) channels, and others contained the tubular inclusions found in the Medich Giant Platelets Disorder (Platelets15:345–353, 2004). Many of the hypogranular cells contained small vacuoles that may have been enclosing membranes of alpha granules. Except for the tubular inclusions, all of these structural variations are observed in GPS Pl (Am. J. Pathol.95:445–462, 1979). However, additional striking abnormalities were seen in GATA-1 Pl that are not characteristic of GPS Pl. Many GATA-1 Pl contained unusual, closely associated dense double membranes differing from normal elements of rough endoplasmic reticulum, smooth endoplasmic reticulum, DTS or surface connected open canalicular system (OCS), but resembling channels of the OCS after exposure to EDTA. They were observed previously only in megakaryocytes (Mk) from one family with GATA-1 DEA-MTP (Nat. Genet, 24:266–270, 2000). The dense double membranes were often found in parallel association and, in some examples, isolating areas of cytoplasm. However, the isolated areas were not undergoing autophagic degradation as such areas enclosed by elements of the DTS do in White Platelet Syndrome Pl (Platelets 15:173,2004). Instead, they proved to be another unique feature of GATA-1 platelets, the presence of Pl within Pl. The sequestered cells were usually mature in appearance and often discoid in form with circumferential coils of microtubules. In some GATA-1 Pl there were two Pl within the same cell, and on rare occasions, a Pl within a Pl within a Pl. Pl within Pl have never been observed previously in any human platelet disorder. Another unique feature, related to Pl within Pl, was the frequent Pl to Pl surface attachment of non-activated cells forming large macrothrombocytes with no similarity to aggregates of stimulated normal platelets. Conclusion: The substructural abnormalities of Pl from patients with germline GATA-1 mutations share some overlap with those seen in GPS Pl, but are distinct and unique. The MTP, Pl within Pl and surface Pl to Pl attachments suggest a major defect in the formation and separation of GATA-1 Pl from pro-Pl of the parent Mk, resulting in the MTP characteristic of the disorder.

scholarly journals An optional dyadic junctional complex revealed by fast-freeze fixation in the bioluminescent system of the scale worm.

1987 ◽  
Vol 105 (5) ◽  
pp. 2245-2256 ◽  
Author(s):  
J M Bassot ◽  
G Nicolas
Keyword(s):  
Endoplasmic Reticulum ◽  
Large Scale ◽  
Smooth Endoplasmic Reticulum ◽  
Junctional Complex ◽  
Extracellular Compartment ◽  
Membrane Growth ◽  
New Type ◽  
Freeze Fixation ◽  
Junctional Complexes ◽  
Short Time

In the bioluminescent system of the scale worm, the facilitation of the successive flashes is correlated with the progressive recruitment, in each photogenic cell, of new units of activity, the photosomes. To characterize morphologically the coupled state of the photosomes, known to decouple within seconds at rest, fast-freeze fixation was applied to stimulated and nonstimulated elytra and followed by substitution with OsO4 in acetone. The results showed striking differences. Photosomes were surrounded by a new type of smooth endoplasmic reticulum (ER) called intermediate endoplasmic reticulum (IER). In nonstimulated elytra, the IER was most often unattached in the cytoplasm. After stimulation, the IER was connected to large terminal saccules that formed dyad junctions with the plasma membrane. Most of these junctional complexes were symmetrical (triads) and occurred in front of narrow extracellular spaces. These spaces were either constitutive, like invaginations or clefts along adjacent cells and adjacent pouches, or resulted from the pairing of long pseudopods which expanded into a wide extracellular compartment and twisted together in a dynamic process. In that the junctional complexes developed progressively under repeated stimulation and coupled more and more photosomes, they must represent a route constituted by the ER for the propagation of internal conduction. The dynamics of coupling involve membrane growth, recognition, and transformation on a surprisingly large scale and in a surprisingly short time.

In Vitro Induction of Crystals of MT Protein by Vinblastine-Colcemid in Mouse Spermatids

1974 ◽  
Vol 32 ◽  
pp. 132-133
Author(s):  
John J. Wolosewick ◽  
John H. D. Bryan
Keyword(s):  
Endoplasmic Reticulum ◽  
Smooth Endoplasmic Reticulum ◽  
Nuclear Ring ◽  
Rough Er ◽  
Distal Direction ◽  
In Vitro Induction

Early in spermiogenesis the manchette is rapidly assembled in a distal direction from the nuclear-ring-densities. The association of vesicles of smooth endoplasmic reticulum (SER) and the manchette microtubules (MTS) has been reported. In the mouse, osmophilic densities at the distal ends of the manchette are the organizing centers (MTOCS), and are associated with the SER. Rapid MT assembly and the lack of rough ER suggests that there is an existing pool of MT protein. Colcemid potentiates the reaction of vinblastine with tubulin and was used in this investigation to detect this protein.

Hepatic Ultrastructure Changes Induced by Lithocholic Acid

1967 ◽  
Vol 25 ◽  
pp. 162-163 ◽  
Author(s):  
F. G. Zaki
Keyword(s):  
Endoplasmic Reticulum ◽  
Lithocholic Acid ◽  
Smooth Endoplasmic Reticulum ◽  
Protein Diet ◽  
Low Protein Diet ◽  
Electron Microscopic ◽  
Hydropic Degeneration ◽  
Hepatic Cells ◽  
Low Protein ◽  
Microscopic Studies

Addition of lithocholic acid (LCA), a naturally occurring bile acid in mammals, to a low protein diet fed to rats induced marked inflammatory reaction in the hepatic cells followed by hydropic degeneration and ductular cell proliferation. These changes were accompanied by dilatation and hyperplasia of the common bile duct and formation of “gallstones”. All these changes were reversible when LCA was withdrawn from the low protein diet except for the hardened gallstones which persisted.Electron microscopic studies revealed marked alterations in the hepatic cells. Early changes included disorganization, fragmentation of the rough endoplasmic reticulum and detachment of its ribosomes. Free ribosomes, either singly or arranged in small clusters were frequently seen in most of the hepatic cells. Vesiculation of the smooth endoplasmic reticulum was often encountered as early as one week after the administration of LCA (Fig. 1).

Ultrastructural Changes of Smoooth Endoplasmic Reticulum in the Retinal Pigment Epithelium by Choline Chloride

1972 ◽  
Vol 30 ◽  
pp. 58-59
Author(s):  
Kazushige Hirosawa ◽  
Eichi Yamada
Keyword(s):  
Endoplasmic Reticulum ◽  
Epithelial Cell ◽  
Smooth Endoplasmic Reticulum ◽  
Pigment Epithelium ◽  
Choline Chloride ◽  
Retinal Pigment ◽  
Ultrastructural Changes ◽  
Lower Vertebrate ◽  
Visual Cells ◽  
Pigment Epithelial

The pigment epithelium is located between the choriocapillary and the visual cells. The pigment epithelial cell is characterized by a large amount of the smooth endoplasmic reticulum (SER) in its cytoplasm. In addition, the pigment epithelial cell of some lower vertebrate has myeloid body as a specialized form of the SER. Generally, SER is supposed to work in the lipid metabolism. However, the functions of abundant SER and myeloid body in the pigment epithelial cell are still in question. This paper reports an attempt, to depict the functions of these organelles in the frog retina by administering one of phospholipid precursors.

Morphological and biochemical analyses of changes in rat hepatocytes related to wine and ethanol consumption

1984 ◽  
Vol 42 ◽  
pp. 232-233
Author(s):  
S.M. Geyer ◽  
C.L. Mendenhall ◽  
J.T. Hung ◽  
E.L. Cardell ◽  
R.L. Drake ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Endoplasmic Reticulum ◽  
Enzyme Activity ◽  
Malic Enzyme ◽  
Smooth Endoplasmic Reticulum ◽  
Rat Hepatocytes ◽  
Mature Male ◽  
Treatment Groups ◽  
Malic Enzyme Activity ◽  
Biochemical Analyses

Thirty-three mature male Holtzman rats were randomly placed in 3 treatment groups: Controls (C); Ethanolics (E); and Wine drinkers (W). The animals were fed synthetic diets (Lieber type) with ethanol or wine substituted isocalorically for carbohydrates in the diet of E and W groups, respectively. W received a volume of wine which provided the same gram quantity of alcohol consumed by E. The animals were sacrificed by decapitation after 6 weeks and the livers processed for quantitative triglycerides (T3), proteins, malic enzyme activity (MEA), light microscopy (LM) and electron microscopy (EM). Morphometric analysis of randomly selected LM and EM micrographs was performed to determine organellar changes in centrilobular (CV) and periportal (PV) regions of the liver. This analysis (Table 1) showed that hepatocytes from E were larger than those in C and W groups. Smooth endoplasmic reticulum decreased in E and increased in W compared to C values.

A Comparison of the Ultrastructural Morphology of Hepatic Necrosis in BDF1 Mice

1981 ◽  
Vol 39 ◽  
pp. 586-587
Author(s):  
Becky Jackson
Keyword(s):  
Endoplasmic Reticulum ◽  
Smooth Endoplasmic Reticulum ◽  
Preliminary Investigation ◽  
Hepatic Necrosis ◽  
Hepatic Tissue ◽  
Pronounced Increase ◽  
Glycogen Store ◽  
Ultrastructural Morphology ◽  
Mitochondrial Integrity ◽  
Glycogen Stores

Preliminary investigation has indicated similarity in hepatic ultrastructural morphology in nutritional deprivation, and cyanide induced hepatic necrosis. Analysis of hepatic tissue has indicated disruption of intracellular membranes, specifically, reduction in rough endoplasmic reticulum (RER) mitochondrial integrity, and glycogen stores. An increase in smooth endoplasmic reticulum (SER) portion was observed.To further investigate the apparent equivalence of necrotic morphology, ultrastructura1ly, BDF1 mice were subjected to senescence, nutritional deprevation, potassium cyanide (KCN) induced toxemia, and acetaminophen induced toxemia. Controls were utilized to ellucidate non-necrotic hepatocellular normals. U1trastructura1 investigation of controls (Fig. 1) shows densely granular RER, abundant glycogen stores, and morphologically normal mitochondria. Subjects with acetaminophen induced necrosis exhibit reduced normal RER with increased levels of dialated, vesicular RER in apparent conversion to SER (Fig. 2), loss of mitochondrial integrity, and glycogen store reduction. Senescent subjects exhibit a pronounced increase in SER and loss of glycogen store. (Fig. 3). Investigation of the senescent SER at high magnification (Fig. 5) indicates that the SER is arising from degranulating and vesiculating RER.

Smooth endoplasmic reticulum in perfusion and immersion-fixed Leydig cells

1990 ◽  
Vol 48 (3) ◽  
pp. 82-83
Author(s):  
R.T.F. Bernard ◽  
R.H.M. Cross
Keyword(s):  
Endoplasmic Reticulum ◽  
Electron Microscope ◽  
Steroid Hormones ◽  
Transmission Electron Microscope ◽  
Leydig Cells ◽  
Smooth Endoplasmic Reticulum ◽  
Random Mixture ◽  
Transmission Electron

Smooth endoplasmic reticulum (SER) is involved in the biosynthesis of steroid hormones, and changes in the organisation and abundance of this organelle are regularly used as indicators of changes in the level of steroidogenesis. SER is typically arranged as a meshwork of anastomosing tubules which, with the transmission electron microscope, appear as a random mixture of cross, oblique and longitudinal sections. Less commonly the SER appears as swollen vesicles and it is generally suggested that this is an artefact caused during immersion fixation or during immersion of poorly-perfused tissue.During a previous study of the Leydig cells of a seasonally reproducing bat, in which tissue was fixed by immersion, we noted that tubular SER and vesicular SER often occured in adjacent cells and sometimes in the same cell, and that the abundance of the two types of SER changed seasonally. We came to doubt the widelyheld dogma that vesicular SER was an artefact of immersion fixation and set out to test the hypothesis that the method of fixation does not modify the ultrastructure of the SER.

THE ULTRASTRUCTURE OF THE HUMAN GRANULOSAL LUTEIN CELL OF THE FIRST TRIMESTER OF GESTATION

1968 ◽  
Vol 58 (3) ◽  
pp. 481-496 ◽  
Author(s):  
Poul Hjortkjær Pedersen ◽  
Jørgen Falck Larsen
Keyword(s):  
Endoplasmic Reticulum ◽  
Smooth Endoplasmic Reticulum ◽  
First Trimester ◽  
Corpora Lutea ◽  
Steroid Synthesis ◽  
Intracellular Location ◽  
Human Pregnancy ◽  
Subendothelial Space ◽  
Lutein Cell ◽  
Early Human

ABSTRACT The ultrastructure of granulosal lutein cells of 13 corpora lutea in early human pregnancy was studied. The predominant cytoplasmic element was the smooth endoplasmic reticulum. No convincing signs of degeneration of the lutein cells could be demonstrated within the first 14 weeks of pregnancy, as the mitochondria as well as the rough and smooth endoplasmic reticulum were well preserved. However, lysosomes may be slightly more numerous in older specimens and the subendothelial space increases with the age of gestation. A particular type of multilaminated structure one to five micron in diameter was observed, particularly in the earliest specimens. The possible intracellular location of steroid synthesis is discussed.

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