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Breath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemia.
Mol Genet Metab
December 2024
National Human Genome Research Institute, Bethesda, MD, USA. Electronic address:
Background: Impaired oxidation of branched chain amino acids may give rise to volatile organic compounds (VOCs). We hypothesized that VOCs will be present in exhaled breath of participants with propionic acidemia (PA), and their relative abundance would correlate with clinical and biochemical characteristics of the disease.
Methods: We enrolled 5 affected participants from a natural history study of PA (ClinicalTrials.
Reproducibility and repeatability of 18F-(2S, 4R)-4-fluoroglutamine PET imaging in preclinical oncology models.
PLoS One
January 2025
Vanderbilt Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, United States of America.
Introduction: Measurement of repeatability and reproducibility (R&R) is necessary to realize the full potential of positron emission tomography (PET). Several studies have evaluated the reproducibility of PET using 18F-FDG, the most common PET tracer used in oncology, but similar studies using other PET tracers are scarce. Even fewer assess agreement and R&R with statistical methods designed explicitly for the task.
View Article and Find Full Text PDFBackground: Intrathecally (IT) delivered antisense oligonucleotides (ASOs) are promising therapies that can reduce tau pathology in Alzheimer's Disease (AD). However, current plasma and CSF sampling methods to estimate brain tissue exposure of ASOs are inherently limited, hampering ASO clinical developmental plans. We developed the PET tracer [F]BIO-687, which binds ASO conjugates (ASO-Tz) in vivo, allowing us to image ASO distribution in a living brain using "pretargeted" imaging.
View Article and Find Full Text PDFBiomarkers.
Alzheimers Dement
December 2024
Translational Neuroimaging Laboratory, The McGill University Research Centre for Studies in Aging, Montréal, QC, Canada.
Background: To evaluate the in vitro binding properties of [C]PiB and [F]NAV4694 head-to-head in post-mortem human brain tissue.
Method: Autoradiography was used to assess uptake of [C]PiB and [F]NAV4694 in control (CN) and Alzheimer's disease (AD) autopsy-confirmed brain tissues. The study focuses on the analysis of the prefrontal cortex, inferior parietal cortex, posterior cingulate cortex and hippocampus sections in 11 CN and 11 AD cases.
Biomarkers.
Alzheimers Dement
December 2024
Huntington Medical Research Institutes, Pasadena, CA, USA.
Background: Dicarboxylic acids (DCAs) are critically important for intermediate metabolism. Since mitochondrial dysfunction and energy dysregulation are associated with AD pathology, we hypothesize that fluctuations in plasma DCAs would accompany AD pathology.
Method: In an ongoing brain-aging study, we recruited older adults (>65 years) classified as cognitively healthy (CH) after neuropsychological testing.
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