Publications by authors named "Sona Samuel"
Article Synopsis
- A significant number of family members with Leber hereditary optic neuropathy (LHON) who have a risk variant do not experience vision loss, indicating a low penetrance of the condition.
- Mitochondrial haplotypes are crucial in determining the likelihood of vision loss related to LHON, with specific variants being common in the general population.
- The paper discusses findings that suggest a correlation between certain mitochondrial subclades and reduced risk of severe vision impairment, while addressing points raised in a related research publication.
MicroRNA-101-3p (miR-101-3p) is a tumour suppressor that regulates cancer proliferation and apoptotic signalling. Loss of miR-101-3p increases the expression of the Polycomb Repressive Complex 2 (PRC2) subunit enhancer of zeste homolog 2 (EZH2), resulting in alterations to the epigenome and enhanced tumorigenesis. MiR-101-3p has also been shown to modulate various aspects of cellular metabolism, however little is known about the mechanisms involved.
View Article and Find Full Text PDFWe conducted an updated epidemiological study of Leber hereditary optic neuropathy (LHON) in Australia by using registry data to establish the risk of vision loss among different LHON mutations, sex, age at onset, and mitochondrial haplogroup. We identified 96 genetically unrelated LHON pedigrees, including 56 unpublished pedigrees, and updated 40 previously known pedigrees, comprising 620 affected individuals and 4,948 asymptomatic carriers. The minimum prevalence of vision loss due to LHON in Australia in 2020 was one in 68,403 individuals.
View Article and Find Full Text PDFArticle Synopsis
- Overexpression of SNAI1, a key regulator of the epithelial-to-mesenchymal transition (EMT), is shown to play a significant role in the development of human acute myeloid leukemia (AML) by affecting cell differentiation and promoting the growth of immature myeloid cells.
- Research indicates that elevated SNAI1 levels can lead to increased self-renewal and proliferation of these cells, suggesting its importance in AML pathology.
- The study highlights a previously unknown interaction between SNAI1 and the histone demethylase KDM1A/LSD1, providing new insights into leukemia mechanisms and potential treatment strategies involving LSD1 inhibitors.