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Analysis of ARMC5 expression in human tissues
Annabel Berthon1, Fabio Faucz1, Jerome Bertherat2
1Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
Abstract:
Mutations in ARMC5 gene have been recently identified as the main cause of Primary Macronodular Adrenocortical Hyperplasia (PMAH). PMAH patients have an ARMC5 germline mutation and, in addition, somatic tissue-specific mutations. This is consistent with the two-hit hypothesis of tumorigenesis and suggests that ARMC5 may be a tumor suppressor gene. As its function is still unclear, we analyzed the expression of the four ARMC5 isoforms in 46 normal human tissues. This showed that at least one ARMC5 isoform is ubiquitously expressed throughout the body; however, only 7 tissues expressed all isoforms, including the adrenal gland and the brain. Interestingly, the highest expression for ARMC5 in the brain is in the pituitary gland. The isoform ARMC5-003 was present in most endocrine tissues including the pituitary, adrenal glands and the pancreas. In this report, we present new data about the ARMC5 expression pattern in human tissues; its wide expression in brain, pituitary gland and other tissues suggest that mutations may be responsible for additional pathologies, beyond what is already known in PMAH and meningiomas.
Insights
Mutations in the ARMC5 gene cause Primary Macronodular Adrenocortical Hyperplasia (PMAH). This study reveals widespread ARMC5 gene expression in human tissues, particularly the brain and pituitary gland, suggesting broader implications for ARMC5-related diseases.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Mutations in the ARMC5 gene are the primary cause of Primary Macronodular Adrenocortical Hyperplasia (PMAH).
- PMAH involves both germline and somatic ARMC5 mutations, aligning with the two-hit hypothesis for tumor suppression.
- The precise function of ARMC5 remains largely uncharacterized.
Purpose of the Study:
- To investigate the expression patterns of the four ARMC5 gene isoforms across 46 diverse human tissues.
- To determine the tissue distribution of ARMC5 expression, focusing on endocrine and neural tissues.
- To explore potential correlations between ARMC5 expression and its suggested role as a tumor suppressor.
Main Methods:
- Analysis of ARMC5 isoform expression using tissue samples from 46 normal human organs.
- Quantitative assessment of ARMC5 expression levels in specific tissues, including the adrenal gland, brain, and pituitary gland.
- Comparison of expression patterns across different ARMC5 isoforms.
Main Results:
- At least one ARMC5 isoform is expressed ubiquitously across all 46 analyzed human tissues.
- Seven specific tissues, including the adrenal gland and brain, express all identified ARMC5 isoforms.
- The pituitary gland exhibits the highest ARMC5 expression within the brain; ARMC5-003 is prevalent in endocrine tissues like the pituitary, adrenal glands, and pancreas.
Conclusions:
- ARMC5 exhibits broad tissue expression, with significant presence in the brain and pituitary gland.
- The widespread expression pattern suggests that ARMC5 mutations may contribute to pathologies beyond PMAH and meningiomas.
- Further research into ARMC5 function is warranted due to its expression in critical endocrine and neural tissues.
