What Causes Cyclic Neutropenia? Unraveling the Mystery
What Causes Cyclic Neutropenia? Unraveling the Mystery
The Big Picture
Cyclic neutropenia is linked to genetic changes affecting neutrophil production. Discover what causes this unusual condition.
Contents
- Genetic Mutations
- How Mutations Affect Neutrophils
- Influence of Other Genetic Factors
Genetic Mutations
Cyclic neutropenia is primarily caused by mutations in the ELANE gene, which encodes neutrophil elastase. These mutations lead to abnormal neutrophil development and periodic drops in neutrophil counts. The ELANE gene mutations are inherited in an autosomal dominant pattern, affecting both males and females.
How Mutations Affect Neutrophils
The mutations cause accelerated apoptosis, or cell death, of neutrophil precursors. This leads to the characteristic oscillating pattern of neutrophil counts. The abnormal neutrophil elastase fails to inhibit early apoptosis, disrupting normal neutrophil production and leading to recurrent neutropenia.
Influence of Other Genetic Factors
While ELANE mutations are central, other genetic elements may influence the condition's severity and symptoms. Variations in other genes can modify how cyclic neutropenia manifests, making it crucial to consider genetic testing in diagnosis.
FAQs
What gene is involved?
The ELANE gene is primarily involved.
How do mutations affect neutrophils?
They cause premature cell death, lowering neutrophil counts.
Is cyclic neutropenia inherited?
Yes, it's inherited in an autosomal dominant pattern.
Do other genes play a role?
Yes, other genetic factors can influence severity.
Wrapping Up
Understanding the genetic causes of cyclic neutropenia can aid in better diagnosis and treatment.
Additional References
- Horwitz MS, Corey SJ, Grimes HL, Tidwell T. ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology. Hematol Oncol Clin North Am 2013; 27:19.
- Makaryan V, Zeidler C, Bolyard AA, et al. The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. Curr Opin Hematol 2015; 22:3.
- Germeshausen M, Deerberg S, Peter Y, et al. The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. Hum Mutat 2013; 34:905.
This article has been reviewed for accuracy by one of the licensed medical doctors working for Doctronic.