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SDH Subunit Mutation Status in Saliva: Genetic Testing in Patients with Pheochromocytoma
T E Osinga1,2, P Xekouki3, J Nambuba1
1Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, USA.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme
|February 27, 2016
Summary
Saliva DNA is a viable alternative to blood for screening pheochromocytoma/paraganglioma patients for succinate dehydrogenase (SDH) gene mutations. This method offers comparable DNA yields and acceptable purity for genetic analysis.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Germline mutations in succinate dehydrogenase (SDH) genes, particularly SDHB and SDHD, are prevalent in pheochromocytoma/paraganglioma (PGL).
- Blood is the traditional source for high-quality DNA, but saliva offers a less invasive collection method.
Purpose of the Study:
- To evaluate the efficacy of using salivary DNA for detecting SDHB and SDHD gene mutations in PGL patients.
- To compare DNA yield and purity from saliva versus blood samples.
Main Methods:
- Paired blood and saliva samples were collected from 30 PGL patients.
- DNA was extracted from both sample types using standard protocols and the Oragene DISCOVER kit for saliva.
- SDHB and SDHD gene exons were amplified via PCR and sequenced using Sanger sequencing.
Main Results:
- Saliva and blood DNA concentrations were comparable (p=0.2).
- Saliva DNA exhibited slightly lower purity (OD260/OD280 ratio) than blood DNA due to increased protein contamination (p=0.001).
- Despite minor purity differences, salivary DNA was suitable for mutation screening.
Conclusions:
- Salivary DNA is a practical and effective alternative to blood-derived DNA for screening SDHB and SDHD mutations in pheochromocytoma/paraganglioma.
- This non-invasive method simplifies sample collection while maintaining sufficient DNA quality for genetic analysis.
