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Mucopolysaccharidoses: ultrastructure of leukocyte inclusions
Abstract:
Ultrastructural study of leukocytes from 7 patients with mucopolysaccharidosis (MPS) I, II, or III demonstrated a variety of membrane-bound inclusions in 34 to 68% of lymphocytes and larger mononuclear cells. The most common inclusions were membrane-bound vacuoles containing faintly osmiophilic material, but a variety of clear vacuoles, dense granular inclusions and myelin figures were also seen. Fingerprint profiles were present in small percentages in MPS II and III, indicating that they are not as specific as previously considered. Granulocytes, lymphocytes, and larger mononuclear cells from a patient with MPS VII showed many small and large membrane-bound vacuolated inclusions, some of which contained large dense granules. The presence of alterations in a readily accessible tissue such as blood indicates that ultrastructural study of leukocytes may be a useful adjunct in guiding further biochemical studies in MPS, especially in early or obscure cases.
Insights
Ultrastructural analysis of leukocytes in mucopolysaccharidosis (MPS) patients revealed common membrane-bound inclusions. These cellular alterations in blood may aid in diagnosing MPS, particularly in early or unclear cases.
Area of Science:
- Cell Biology
- Medical Genetics
- Hematology
Background:
- Mucopolysaccharidoses (MPS) are a group of rare genetic disorders.
- Accumulation of glycosaminoglycans leads to cellular dysfunction.
- Diagnosis often relies on biochemical assays.
Purpose of the Study:
- To investigate ultrastructural changes in leukocytes of MPS patients.
- To assess the diagnostic utility of leukocyte morphology in MPS.
- To identify specific cellular inclusions associated with MPS types I, II, III, and VII.
Main Methods:
- Ultrastructural examination of leukocytes (lymphocytes, mononuclear cells, granulocytes).
- Analysis of blood samples from 7 patients with MPS I, II, or III, and one with MPS VII.
- Identification and characterization of intracellular inclusions.
Main Results:
- 34-68% of lymphocytes and mononuclear cells showed membrane-bound inclusions in MPS I, II, and III.
- Common inclusions included osmiophilic vacuoles, clear vacuoles, dense granules, and myelin figures.
- Fingerprint profiles were observed in a small percentage of MPS II and III cases.
- MPS VII leukocytes exhibited numerous vacuolated inclusions, some with dense granules.
Conclusions:
- Ultrastructural examination of leukocytes reveals characteristic inclusions in MPS.
- Leukocyte alterations are detectable in accessible peripheral blood.
- This method can serve as a valuable adjunct to biochemical studies for MPS diagnosis, especially in challenging cases.