Publications by authors named "Rikhil Makwana"
Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosolic proteins in humans. The human essential gene, encodes the enzyme NAA10, as the catalytic subunit for the N-terminal acetyltransferase A (NatA) complex, including the accessory protein, NAA15. The first human disease directly involving was discovered in 2011, and it was named Ogden syndrome (OS), after the location of the first affected family residing in Ogden, Utah, USA.
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- Ogden Syndrome and related neurodevelopmental disorders exhibit a range of symptoms including intellectual disability, hypotonia, and seizures, but there is limited imaging data on their neuroanatomical issues.
- The study aims to analyze neuroimaging from 26 individuals with these syndromes to identify common anomalies and their progression over time, incorporating detailed medical and developmental histories.
- Results show that those with Ogden Syndrome had significantly more anatomical abnormalities compared to those with NAA15 related syndrome, and a correlation exists between the number of abnormalities and poorer functional scores on the Vineland 3 scale.
Article Synopsis
- Ogden syndrome, a rare genetic disorder linked to variants in the NAA10 protein, leads to various neurological issues like intellectual disability, seizures, and developmental delays, and was first identified in 2011.
- A study involving 58 participants assessed their cognitive decline over time using the Vineland-3 tool, revealing a general decrease in cognitive function across all areas for most individuals.
- The research also examined seizure characteristics and the impact of non-drug therapies, finding that speech therapy was the most utilized, particularly among those with more severe symptoms, though no significant difference was noted in adaptive behavior outcomes between those with and without seizures.
NAA15 is a member of the NatA N-terminal acetyltransferase complex, which also includes the NAA10 enzymatic sub-unit. Individuals with variants in the coding region develop -related neurodevelopmental syndrome, which presents with a wide array of manifestations that affect the heart, brain, musculoskeletal system, and behavioral and cognitive development. We tracked a cohort of 27 participants (9 females and 18 males) over time, each with a pathogenic variant, and administered the Vineland-3 assessment to assess their adaptive functioning.
View Article and Find Full Text PDFOgden syndrome, also known as NAA10-related neurodevelopmental syndrome, is a rare genetic condition associated with pathogenic variants in the NAA10 N-terminal acetylation family of proteins. The condition was initially described in 2011, and is characterized by a range of neurologic symptoms, including intellectual disability and seizures, as well as developmental delays, psychiatric symptoms, congenital heart abnormalities, hypotonia and others. Previously published articles have described the etiology and phenotype of Ogden syndrome, mostly with retrospective analyses; herein, we report prospective data concerning its progress over time.
View Article and Find Full Text PDFBecause of their development, relatively simple nervous system, translucency, and availability of tools to investigate neural function, larval zebrafish are an exceptional model for understanding neurodevelopmental disorders and the consequences of environmental toxins. Furthermore, early in development, zebrafish larvae easily absorb chemicals from water, a significant advantage over methods required to expose developing organisms to chemical agents Bisphenol A (BPA) and BPA analogs are ubiquitous environmental toxins with known molecular consequences. All humans have measurable quantities of BPA in their bodies.
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