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Published on: November 30, 2016
Whole genome microarray expression analysis in blood identifies pathways linked to signs and symptoms of a patient
H S Isaksson1, S A Farkas1, P Müller2
1Department of Laboratory Medicine, Örebro University Hospital, Faculty of Medicine and Health, Örebro University, Sweden.
Insights
This study details a child with hypercalprotectinaemia with hyperzincaemia syndrome, revealing key gene pathway dysregulations. Gene expression analysis identified targets like the JAK/STAT pathway, guiding potential treatments for rare diseases.
Area of Science:
- Genomics
- Molecular Biology
- Clinical Medicine
Background:
- Hypercalprotectinaemia with hyperzincaemia is a rare clinical syndrome.
- Atypical presentations can complicate diagnosis and treatment.
Observation:
- A 2-year-old child presented with persistent fever, thrombocytosis, and intestinal symptoms.
- Whole-genome mRNA expression analysis was performed on blood samples.
Findings:
- Significant upregulation of the Janus kinase/signal transducer and activators of transcription (JAK/STAT) pathway, including CD177, S100A8, S100A9, and S100A12, correlated with thrombocytosis.
- Upregulation of interleukins and their receptors explained the febrile and apathetic state.
- High mobility group box 1 (HMBG1) gene expression may contribute to intestinal symptoms.
Implications:
- Gene expression array technology can aid in diagnosing syndromal states of unknown origin.
- Identifying dysregulated pathways allows for targeted therapeutic strategies.
- This approach may personalize treatment for rare genetic disorders.
Abstract:
A child, 2 years with the 'hypercalprotectinaemia with hyperzincaemia' clinical syndrome, presented with atypical symptoms and signs, notably persistent fever of approximately 38°C, thrombocythaemia of > 700 × 109 /l and a predominance of persistent intestinal symptoms. In an effort to find a cure by identifying the dysregulated pathways we analysed whole-genome mRNA expression by the Affymetrix HG U133 Plus 2·0 array in blood on three occasions 3-5 months apart. Major up-regulation was demonstrated for the Janus kinase/signal transducer and activators of transcription (JAK/STAT) pathway including, in particular, CD177, S100A8, S100A9 and S100A12, accounting for the thrombocytosis; a large number of interleukins, their receptors and activators, accounting for the febrile apathic state; and the high mobility group box 1 (HMBG1) gene, possibly accounting for part of the intestinal symptoms. These results show that gene expression array technology may assist the clinician in the diagnostic work-up of individual patients with suspected syndromal states of unknown origin, and the expression data can guide the selection of optimal treatment directed at the identified target pathways.
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