AI Article Synopsis
- Rare diseases like Phenylketonuria (PKU) and Spinal Muscular Atrophy (SMA) face issues such as late diagnosis, high treatment costs, and limited research opportunities.
- PKU is caused by mutations in the PAH gene and affects cognitive functions, while SMA is linked to mutations in the SMN1 gene and leads to motor neuron loss.
- The study involved analyzing PAH and SMN1 proteins across various organisms to uncover genetic variations, aiming to improve diagnostics for these rare conditions.
Article Abstract
Rare diseases, defined by their low prevalence, present significant challenges, including delayed detection, expensive treatments, and limited research. This study delves into the genetic basis of two noteworthy rare diseases in Saudi Arabia: Phenylketonuria (PKU) and Spinal Muscular Atrophy (SMA). PKU, resulting from mutations in the phenylalanine hydroxylase (PAH) gene, exhibits geographical variability and impacts intellectual abilities. SMA, characterized by motor neuron loss, is linked to mutations in the survival of motor neuron 1 (SMN1) gene. Recognizing the importance of unveiling signature genomics in rare diseases, we conducted a quantitative study on PAH and SMN1 proteins of multiple organisms by employing various quantitative techniques to assess genetic variations. The derived signature-genomics contributes to a deeper understanding of these critical genes, paving the way for enhanced diagnostics for disorders associated with PAH and SMN1.
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| http://dx.doi.org/10.1016/j.ijbiomac.2024.131960 | DOI Listing |
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