AARS2

Alanyl-tRNA Synthetase 2 (AARS2) is a protein-coding gene involved in cellular metabolism and protein synthesis. 

While traditionally recognized for its role in aminoacylation, emerging research suggests broader implications for AARS2 in disease mechanisms and clinical diagnostics. 

This article explores the molecular characteristics, clinical applications, and testing associated with the AARS2 enzyme and the gene that encodes it.  

Understanding AARS2

Definition: What is AARS2?  [1., 4.]

The alanyl-tRNA Synthetase 2 (AARS2) gene encodes a protein belonging to the aminoacyl-tRNA synthetase family. 

The AARS2 enzyme is related to the AARS enzyme, but they operate in different parts of the cell. 

AARS (aminoacyl-tRNA synthetase) and AARS2 (mitochondrial alanyl-tRNA synthetase) are distinct enzymes with different cellular localization and functions. AARS is primarily located in the cytoplasm and is involved in the aminoacylation of transfer RNAs (tRNAs) during protein synthesis.

While both enzymes are essential for protein synthesis, their distinct subcellular localization reflects specialized roles in different cellular compartments, highlighting the complexity of cellular processes and the importance of precise molecular machinery for maintaining cellular function and viability.

The gene for AARS2 may contain alterations or mutations that cause loss of function of the enzymes and can confer increased risk of disease in affected humans.  

Testing for genetic alterations in the form of SNPs is increasingly available and can shed light on an individual’s potential for health and disease.  

What is a SNP?

A SNP, or single nucleotide polymorphism, refers to a variation at a single position in a gene along its DNA sequence.  A gene encodes a protein, so an alteration in that gene programs the production of an altered protein.  

As a type of protein with great functionality in human health, alterations in genes for enzymes may confer a difference in function of that enzyme.  The function of that enzyme may be increased or decreased, depending on the altered protein produced.  

SNPs are the most common type of genetic variation in humans and can occur throughout the genome, influencing traits, susceptibility to diseases, and response to medications.

The completion of the Human Genome Project has significantly expanded opportunities for genetic testing by providing a comprehensive map of the human genome that facilitates the identification of genetic variations associated with various health conditions, including identifying SNPs that may cause alterations in protein structure and function.  

Genetic testing for SNPs enables the identification of alterations in genes, shedding light on their implications in health and disease susceptibility.

Functions Associated with AARS2 [1., 2., 4.]

Within the mitochondria AARS2 participates in mitochondrial protein synthesis, contributing to the production of essential respiratory chain components. 

Moreover, emerging evidence suggests a regulatory role for AARS2 in mitochondrial biogenesis, apoptosis, and cellular stress responses, further highlighting its involvement in cellular processes beyond protein synthesis.  [3.]

Neurological Disorders

Alterations in the AARS2 gene are linked to a spectrum of neurological disorders, particularly those affecting mitochondrial function. 

These alterations include mutations leading to the autosomal recessive inheritance of Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL), a rare neurodegenerative disorder characterized by white matter abnormalities in the brain. 

Certain mutations are associated with infantile-onset leukoencephalopathy with brain stem and spinal cord involvement, which manifests with motor and cognitive impairments.  

Additionally, mutations in AARS2 have been associated with other neurological conditions such as ataxia, peripheral neuropathy, and epilepsy.  [2.]

Lab Testing for AARS2

Genetic testing for single nucleotide polymorphisms (SNPs) typically involves obtaining a sample of DNA which can be extracted from blood, saliva, or cheek swabs. 

The sample may be taken in a lab, in the case of a blood sample.  Alternatively, a saliva or cheek swab sample may be taken from the comfort of home. 

Test Preparation

Prior to undergoing genetic testing, it's important to consult with a healthcare provider or genetic counselor to understand the purpose, potential outcomes, and implications of the test. This consultation may involve discussing medical history, family history, and any specific concerns or questions. 

Additionally, individuals may be advised to refrain from eating, drinking, or chewing gum for a short period before providing a sample to ensure the accuracy of the test results. Following sample collection, the DNA is processed in a laboratory where it undergoes analysis to identify specific genetic variations or SNPs. 

Once the testing is complete, individuals will typically receive their results along with interpretation and recommendations from a healthcare professional. 

It's crucial to approach genetic testing with proper understanding and consideration of its implications for one's health and well-being.

Patient-Centric Approaches

A patient-centered approach to SNP genetic testing emphasizes individualized medicine, tailoring healthcare decisions and interventions based on an individual's unique genetic makeup.

When that is combined with the individual’s health status and health history, preferences, and values, a truly individualized plan for care is possible. 

By integrating SNP testing into clinical practice, healthcare providers can offer personalized risk assessment, disease prevention strategies, and treatment plans that optimize patient outcomes and well-being. 

Genetic testing empowers a deeper understanding of genetic factors contributing to disease susceptibility, drug response variability, and overall health, empowering patients to actively participate in their care decisions. 

Furthermore, individualized medicine recognizes the importance of considering socioeconomic, cultural, and environmental factors alongside genetic information to deliver holistic and culturally sensitive care that aligns with patients' goals and preferences. 

Through collaborative decision-making and shared decision-making processes, patients and providers can make informed choices about SNP testing, treatment options, and lifestyle modifications, promoting patient autonomy, engagement, and satisfaction in their healthcare journey.

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