Corticosteroid-binding globulin: Difference between revisions
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==Naturally-occurring genetic variants<ref>PMID: 19643161 </ref>== | ==Naturally-occurring genetic variants<ref>PMID: 19643161 </ref>== | ||
''Leuven'' | |||
CBG Leuven has an exon 2 point mutation which changes Leucine 93 to a histidine, which reduces the binding affinity for cortisol by three-fold, although there appears to be no known clinical implications. | CBG Leuven has an exon 2 point mutation which changes Leucine 93 to a histidine, which reduces the binding affinity for cortisol by three-fold, although there appears to be no known clinical implications. | ||
''Lyon'' | |||
CBG Lyon has an exon 5 point mutation which changes Aspartate 367 to an asparagine. This mutation lies close to the cortisol-binding pocket and reduces cortisol affinity by four-fold. Heterozygotes show reduction in immunoreactive CBG levels and total cortisol levels but were otherwise healthy, while homozygotes presented with fatigue, depressed mood and low blood pressure. | CBG Lyon has an exon 5 point mutation which changes Aspartate 367 to an asparagine. This mutation lies close to the cortisol-binding pocket and reduces cortisol affinity by four-fold. Heterozygotes show reduction in immunoreactive CBG levels and total cortisol levels but were otherwise healthy, while homozygotes presented with fatigue, depressed mood and low blood pressure. | ||
''CBG Null'' | |||
CBG Null is an exon 2 null mutation resulting in premature termination codon corresponding to residue -12 of pro-CBG molecule (G121A). This leads to 50% (heterozygotes) or undetectable (homozygotes) CBG levels, and both hetero- and homozygotes presented with chronic fatigue and low blood pressure | CBG Null is an exon 2 null mutation resulting in premature termination codon corresponding to residue -12 of pro-CBG molecule (G121A). This leads to 50% (heterozygotes) or undetectable (homozygotes) CBG levels, and both hetero- and homozygotes presented with chronic fatigue and low blood pressure | ||
==Conclusion== | ==Conclusion== | ||
