Genetic variation in human metabolism and its impact on health and disease


Genetic variation in human metabolism and its impact on health and disease

Much of the metabolic variation among individuals is genetically defined. Metabolically-derived phenotypes are profoundly important both to human disease and to the history of experimental biology. Indeed, most of the classical experiments in genetics followed phenotypes caused by metabolic mutants. Mendel’s pea seeds were smooth or wrinkled according to whether they expressed wild-type or mutant alleles of a starch-branching enzyme, and T. H. Morgan followed Drosophila eye color phenotypes that reflected altered transport of metabolites required for pigment synthesis. Ultimately observations like these led to the “one gene-one enzyme” formulation of genetics and phenotypic inheritance, a precursor of the central dogma of molecular biology.

Metabolic variation also causes human phenotypes, and the characterization of extreme metabolic perturbations fostered the concept that human diseases could be inherited as simple traits. This idea was formulated by Archibald Garrod in London during the first decade of the 20th Century. Garrod’s discoveries were propelled by an unusual combination of interests: chemistry, urine pigments, and joint diseases (some of these were evidently inherited from his father, who first observed uric acid crystals in the urine of gout patients). Garrod’s breakthrough was the observation that alkaptonuria-an arthritic disorder characterized by massive excretion of pigment-generating homogentisic acid in the urine – recurred in families in an autosomal recessive pattern. Notably, Garrod reported the finding just two years after the rediscovery of Mendel’s pea experiments, to which he referred in the paper. Garrod observed similar heritable metabolic anomalies in albinism, cystinuria and pentosuria, collectively termed these diseases “inborn errors of metabolism (IEMs),” and published his seminal treatise on the subject in 1923. This conclusively established the importance of metabolic pathways in human health and, conversely, the impact of genetically-defined metabolic outliers on disease.

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