Current research in physiology · 2025
Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
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Ajayi Joseph Abayomi, Ananias Evelyn Nnashiru, Issa-Lawal Muneerah, Gambari Abdulkadir Mashood, Aribatise Adetoun Bunmi, Ojulari Lekan Sheriff, Alagbonsi Abdullateef Isiaka
Аннотация
BACKGROUND: Amino acids play vital roles in protein synthesis, energy metabolism, and cellular function. Aminoacidurias are metabolic disorders characterized by excessive urinary excretion of amino acids resulting from defects in renal tubular reabsorption or amino acid metabolism. These disorders result from a combination of genetic mutations affecting transporter proteins and environmental factors that influence disease severity. This review aims to explore the molecular mechanisms by which genetic and environmental factors disrupt amino acid homeostasis.
METHODS: A scoping review was conducted following Arksey and O'Malley's framework. Relevant literature from 1980 to 2025 was identified using the PubMed and Google Scholar databases. Studies reporting genes or genetic variants, as well as environmental factors associated with aminoacidurias in humans and animals, were included.
RESULTS: The review highlighted 9 genes associated with aminoacidurias, including SLC3A1 (rBAT), SLC7A9 (bo,+AT), SLC6A19 (BoAT1), SLC7A7 (y+LAT1), SLC7A6 (y+LAT2), SLC36A2 (PAT-2), SLC6A20 (SIT-1), SLC6A18 (BoAT3), and SLC1A1 (EAAT3). Over 350 gene mutations responsible for aminoacidurias were identified. Environmental factors, including dietary intake (such as Vitamin D deficiency), gut microbiota and dysbiosis, drugs and heavy metal exposure (specifically Lead and Cadmium), were also found to cause aminoacidurias.
CONCLUSION: Understanding the genetic and environmental mechanisms underlying aminoacidurias is crucial for improving diagnostic strategies and developing targeted therapeutic approaches. Our findings reveal that aminoacidurias are largely influenced by genetic factors, with few environmental factors implicated in the pathophysiology of aminoacidurias. Future research should focus on gene-environment interactions and developing novel therapies targeting specific amino acid transport pathways to enhance treatment outcomes for affected individuals.
METHODS: A scoping review was conducted following Arksey and O'Malley's framework. Relevant literature from 1980 to 2025 was identified using the PubMed and Google Scholar databases. Studies reporting genes or genetic variants, as well as environmental factors associated with aminoacidurias in humans and animals, were included.
RESULTS: The review highlighted 9 genes associated with aminoacidurias, including SLC3A1 (rBAT), SLC7A9 (bo,+AT), SLC6A19 (BoAT1), SLC7A7 (y+LAT1), SLC7A6 (y+LAT2), SLC36A2 (PAT-2), SLC6A20 (SIT-1), SLC6A18 (BoAT3), and SLC1A1 (EAAT3). Over 350 gene mutations responsible for aminoacidurias were identified. Environmental factors, including dietary intake (such as Vitamin D deficiency), gut microbiota and dysbiosis, drugs and heavy metal exposure (specifically Lead and Cadmium), were also found to cause aminoacidurias.
CONCLUSION: Understanding the genetic and environmental mechanisms underlying aminoacidurias is crucial for improving diagnostic strategies and developing targeted therapeutic approaches. Our findings reveal that aminoacidurias are largely influenced by genetic factors, with few environmental factors implicated in the pathophysiology of aminoacidurias. Future research should focus on gene-environment interactions and developing novel therapies targeting specific amino acid transport pathways to enhance treatment outcomes for affected individuals.