Publications by authors named "G A Neale"
Article Synopsis
- The study investigates how somatic mitochondrial DNA mutations influence the development of leukemia, specifically through experiments with hematopoietic progenitor cells (HPCs) from genetically modified mice.
- Researchers found that recipients of heterozygous mtDNA mutator HPCs had a higher spontaneous leukemia incidence, while homozygous mtDNA mutator HPCs had a lower incidence when combined with NMyc overexpression.
- Both types of HPCs exhibited mitochondrial function impairments, but only heterozygous HPCs adapted to the metabolic demands of NMyc overexpression, as demonstrated by altered glucose utilization linked to metabolic changes in homozygous HPCs.
Article Synopsis
- Sequence-based genetic testing finds causative variants in about 50% of cases of developmental and epileptic encephalopathies (DEEs), but DNA methylation changes in these cases have not been thoroughly explored.
- This study analyzed genome-wide DNA methylation in blood samples from 582 individuals with unresolved DEEs, identifying rare methylation patterns and potential genetic causes in 12 of these cases.
- The research highlights the effectiveness of DNA methylation analysis in diagnosing DEEs, showing a 2% diagnostic yield, and provides insights into the CHD2 gene's pathophysiology using advanced sequencing methods.
Importance: Current research in epigenetic age acceleration (EAA) is limited to non-Hispanic White individuals. It is imperative to improve inclusivity by considering racial and ethnic minorities in EAA research.
Objective: To compare non-Hispanic Black with non-Hispanic White survivors of childhood cancer by examining the associations of EAA with cancer treatment exposures, potential racial and ethnic disparity in EAA, and mediating roles of social determinants of health (SDOH).
The phase 3 INO-VATE trial demonstrated higher rates of remission, measurable residual disease negativity, and improved overall survival for patients with relapsed/refractory (R/R) acute lymphoblastic leukemia (ALL) who received inotuzumab ozogamicin (InO) vs standard-of-care chemotherapy (SC). Here, we examined associations between genomic alterations and the efficacy of InO. Of 326 randomized patients, 91 (InO, n = 43; SC, n = 48) had samples evaluable for genomic analysis.
View Article and Find Full Text PDFBackground: Childhood cancer survivors are at high risk for morbidity and mortality and poor patient-reported outcomes, typically health-related quality of life (HRQOL). However, associations between DNA methylation-based aging biomarkers and HRQOL have not been evaluated.
Methods: DNA methylation was generated with Infinium EPIC BeadChip on blood-derived DNA (median for age at blood draw = 34.