Publications by authors named "V M Siu"
Aminoacyl-tRNA synthetases catalyze the ligation of a specific amino acid to its cognate tRNA. The resulting aminoacyl-tRNAs are indispensable intermediates in protein biosynthesis, facilitating the precise decoding of the genetic code. Pathogenic alleles in the aminoacyl-tRNA synthetases can lead to several dominant and recessive disorders.
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- Heterozygous pathogenic variants in the HARS gene are linked to Charcot-Marie-Tooth (CMT) type 2W disease, a form of peripheral neuropathy, with at least 60 variants identified across several aminoacyl-tRNA synthetases.
- A novel HARS variant, c.412T>C; p.Y138H, was discovered in a patient using a CMT gene panel, prompting further investigation into its effects.
- Through studies using a humanized yeast model and protein analysis, researchers found that the p.Y138H variant caused protein dimerization issues and growth defects, but these problems showed improvement when histidine was supplied, suggesting a possible avenue for clinical trials.
Background: Severe combined immunodeficiency (SCID) is a life-threatening genetic disorder caused by critical defects of the immune system. Almost all cases are lethal if not treated within the first two years of life. Early diagnosis and intervention are thus essential for improving patient outcomes.
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