Association between rat decompression sickness resistance, transthyretin single nucleotide polymorphism, and...

Area of Science:

• Physiology
• Genetics
• Biochemistry

Background:

• Decompression sickness (DCS) is a systemic condition arising from reduced environmental pressure.
• Previous research indicated a significant decrease in plasmatic transthyretin (TTR) in rats experiencing DCS.
• This study investigates the potential association between DCS resistance and TTR gene polymorphism.

Purpose of the Study:

• To determine if genetic variations in the TTR gene are associated with resistance to decompression sickness (DCS).
• To explore the relationship between TTR gene polymorphism and hepatic TTR mRNA expression in DCS-resistant rats.

Main Methods:

• Sanger sequencing was used to analyze the TTR gene in standard and DCS-resistant rats.
• Hepatic TTR mRNA expression was quantified using RT-qPCR in both groups of rats.
• Statistical analyses were performed to assess the significance of observed genetic variations and expression levels.

Main Results:

• A synonymous single nucleotide polymorphism (SNP) at codon 46 (c.138 C>T) was identified in the TTR gene.
• The thymine allele of this SNP was prevalent in standard rats (90-100%) but significantly less common in DCS-resistant rats (30%).
• DCS resistance and sex significantly affected TTR expression, with lower TTR mRNA levels observed in resistant animals.

Conclusions:

• DCS resistance in rats is potentially associated with a specific TTR gene SNP.
• Lower hepatic TTR mRNA expression may also contribute to DCS resistance.
• These findings suggest TTR gene variations and expression levels as potential biomarkers for DCS susceptibility.