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Pharmaco-genomics and anaesthesia: Mysteries, correlations and facts

Indian Journal of Anaesthesia
Medknow Publications
Publication Date
DOI: 10.4103/0019-5049.118517
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Clinical importance of genetic disorders is being increasingly recognised in anaesthesia practice as more number of cases present for surgeries in our country, evidenced by submissions and publications in this journal.[1] Much of this is the result of newer diagnostic modalities, increased awareness and advanced genetics.[23] Some of the genetic disorders are incidentally detected during pre-anaesthetic evaluation while some are pre-diagnosed; the challenges become manifold during emergency surgeries due to inadequate time for evaluation and optimization.[2] Genetic disorders may manifest as abnormalities and derangements involving different organ systems which have been comprehensively described in a systematic review by Butler et al.[2] The presence of neurological and developmental defects is difficult to diagnose as most of the patients are young and specialist assessment could be needed. Impairment of vision and hearing compounds the problem.[2] Since the range of disorders is so varied, management guidelines have evolved only for some of the more recognised disorders such as malignant hyperthermia, porphyrias, α-thalassemia, Down's syndrome and other congenital disorders while rest are managed purely on case by case basis. The genetic disorders may be autosomal dominant, recessive, X-linked, homozygous or heterozygous in presentation. Genes which undergo mutation when subjected to volatile anaesthetics have been identified in experimental animals such as mice, flies and worms (Syntoxin, Stomatin, Gas-1, White/brown Drosophila genes, Para genes, etc); they can impact cell function and the response to anaesthetics.[4] Mutations of the genes which code for the subunit of GABA receptors in brain can account for increased anaesthetic requirement as the resistance to volatile anaesthetics increases, possibly contributing to individual variations in response to anaesthetic drugs.[4] The study of such differences in response to certain drugs among individuals constitutes the speciality of p

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