N Methylpipecolate
Introduction
Section titled “Introduction”‘n methylpipecolate’, chemically known as N-methylpiperidine-2-carboxylate, is a naturally occurring organic compound found in various biological systems. It is an N-methylated derivative of pipecolic acid, which itself is a derivative of the amino acid L-lysine. As a metabolite, ‘n methylpipecolate’ is typically present in trace amounts and is part of the complex network of metabolic pathways within organisms.
Biological Basis
Section titled “Biological Basis”The presence of ‘n methylpipecolate’ in biological systems primarily stems from metabolic processes. It is generally understood to be involved in the catabolism of lysine or, less commonly, proline. Pipecolic acid, its precursor, is a well-known intermediate in the lysine degradation pathway in mammals. The N-methylation reaction leading to ‘n methylpipecolate’ can occur through enzymatic activity, though its precise role and the enzymes responsible are subjects of ongoing research. Its detection often indicates the activity of these specific metabolic routes.
Clinical Relevance
Section titled “Clinical Relevance”While ‘n methylpipecolate’ itself is not a primary biomarker for a widespread disease, its presence and levels can sometimes provide insights into an individual’s metabolic state. Abnormal levels of related metabolites, such as pipecolic acid, can be indicative of rare metabolic disorders like pipecolic acidemia, which affects the catabolism of lysine. Studying ‘n methylpipecolate’ and its metabolic context can contribute to a broader understanding of human metabolism and the potential impacts of enzymatic deficiencies or imbalances.
Social Importance
Section titled “Social Importance”The study of metabolites like ‘n methylpipecolate’ holds social importance by contributing to the comprehensive understanding of human health and disease. By elucidating the roles of such compounds, researchers can gain deeper insights into fundamental biological processes, identify potential biomarkers for early disease detection, and develop new diagnostic or therapeutic strategies. This knowledge underpins advancements in personalized medicine and public health initiatives focused on metabolic wellness.
Limitations
Section titled “Limitations”Study Design and Statistical Power
Section titled “Study Design and Statistical Power”Many genetic association studies of traits like n methylpipecolate have been constrained by moderate sample sizes, which can limit statistical power and lead to an increased risk of false negative findings These genetic associations highlight how subtle changes in DNA sequences can alter gene function, protein activity, and ultimately, metabolic pathways.
Variants in genes like PYROXD2, HPS1, and CEP89 are implicated in fundamental cellular processes that indirectly influence overall metabolic health. PYROXD2(Pyridine Nucleotide-Disulphide Oxidoreductase Domain Containing 2) is believed to be involved in maintaining cellular redox balance, a critical aspect of energy metabolism and detoxification. Variants such asrs2147896 , rs2296441 , and rs10786415 within PYROXD2 could potentially alter the efficiency of these redox reactions, thereby affecting the cellular environment necessary for proper metabolic function. Similarly, HPS1 (Hermansky-Pudlak Syndrome 1) is involved in the formation and trafficking of lysosome-related organelles, crucial for waste removal and nutrient processing, while CEP89 (Centrosomal Protein 89) contributes to cell division and structural integrity. A variant like rs2296435 in HPS1 or rs1229715947 in CEP89could impact the precise regulation of these cellular mechanisms, which are tightly integrated with broad metabolic pathways that could encompass compounds like n-methylpipecolate.[1]
The SLC6A20gene encodes a sodium- and chloride-dependent proline transporter, playing a significant role in the reabsorption of proline and other amino acids in the kidneys and intestines. This transport activity is vital for maintaining amino acid homeostasis, which directly impacts protein synthesis, energy production, and various metabolic cycles. A variant such asrs17279437 in SLC6A20could alter the efficiency of proline transport, leading to changes in the availability of this amino acid for other metabolic pathways. TheAKR1C4(Aldo-Keto Reductase Family 1 Member C4) gene codes for an enzyme that metabolizes a diverse range of substrates, including steroid hormones, prostaglandins, and xenobiotics, often through reduction reactions. Adjacent toAKR1C4 is LINC02561, a long intergenic non-coding RNA, which may regulate the expression or function of neighboring genes. The rs7897822 variant, located in the region of AKR1C4 and LINC02561, could therefore affect the activity of this crucial metabolic enzyme or its regulatory mechanisms. Alterations in these pathways, whether through amino acid transport or reductase activity, could collectively influence the pool of metabolic intermediates and breakdown products, potentially affecting the concentration of n-methylpipecolate.[2]
Based on the provided context, there is no information available regarding ‘n methylpipecolate’. Therefore, a biological background section for this trait cannot be generated from the given sources.
Key Variants
Section titled “Key Variants”| RS ID | Gene | Related Traits |
|---|---|---|
| rs2147896 rs2296441 rs10786415 | PYROXD2 | urinary metabolite measurement metabolite measurement N-methylpipecolate measurement N2-acetyl,N6-methyllysine measurement N6-methyllysine measurement |
| rs2296435 | HPS1 | N-methylpipecolate measurement |
| rs1229715947 | CEP89 | N-methylpipecolate measurement |
| rs17279437 | SLC6A20 | metabolite measurement brain connectivity attribute macula attribute macular telangiectasia type 2 brain attribute |
| rs7897822 | AKR1C4 - LINC02561 | bilirubin measurement X-12112 measurement serum gamma-glutamyl transferase measurement level of ectonucleotide pyrophosphatase/phosphodiesterase family member 2 in blood serum N-methylpipecolate measurement |
References
Section titled “References”[1] Wallace, C., et al. “Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.”Am J Hum Genet, vol. 82, no. 1, 2008, pp. 139–149.
[2] Gieger, C. et al. “Genetics Meets Metabolomics: A Genome-Wide Association Study of Metabolite Profiles in Human Serum.”PLoS Genetics, vol. 4, no. 11, 2008, e1000282.