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. 2024 Dec;205(6):2139-2141.
doi: 10.1111/bjh.19794. Epub 2024 Sep 27.

Apoptosis and platelet biogenesis: A new piece of information on a debated topic

Carlo Zaninetti  1 , Andreas Greinacher  1
Affiliations

Apoptosis and platelet biogenesis: A new piece of information on a debated topic

Carlo Zaninetti et al. Br J Haematol. 2024 Dec.

Abstract

Thrombocytopenia 4 (THC4) is an extremely rare form of inherited thrombocytopenia caused by mutations in the gene encoding cytochrome c (CYCS). The mechanism leading to reduced blood platelets remains unclear, although an unrestrained megakaryocyte apoptosis as a consequence of CYCS alterations has been proposed. The report of a TCH4 family with a novel CYCS variant unravels clues on the pathogenesis of this disorder and spotlights back on the still-discussed role of apoptosis in human platelet and megakaryocyte physiology. Commentary on: Štika et al. A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study. Br J Haematol 2024; 205: 2450-2458.

Keywords: molecular analysis; platelet disorders; thrombocytopenia.

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References

REFERENCES

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