Publications by authors named "C Hotzy"
Article Synopsis
- Early-onset dementia (EOD) has a genetic basis, with whole-exome sequencing (WES) being utilized for screening and gene discovery among affected individuals.
- In a study of 60 Austrian EOD patients, 20% were found to have likely disease-causing genetic variants, including notable genes like PSEN1 and APP, suggesting a need for further genetic understanding and patient counseling.
- The research highlights the importance of sharing genetic data and findings to enable collaboration and potentially identify new genetic risk factors in EOD across different patient groups.
Elevated urine bis(monoacylglycerol)phosphate (BMP) levels have been found in gain-of-kinase function LRRK2 G2019S mutation carriers. Here, we have expanded urine BMP analysis to other Parkinson's disease (PD) associated mutations and found them to be consistently elevated in carriers of LRRK2 G2019S and R1441G/C as well as VPS35 D620N mutations. Urine BMP levels are promising biomarkers for patient stratification and potentially target engagement in clinical trials of emerging targeted PD therapies.
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- C9orf72 repeat expansions are linked to neurodegenerative disorders, with unclear thresholds distinguishing normal from pathogenic variants.
- In a study of 1804 patients and 643 healthy individuals in Austria, the presence of C9orf72 repeat expansions was found in 3.4% of frontotemporal dementia and 0.8% of Alzheimer's disease cases, with carriers experiencing earlier disease onset.
- Intermediate C9orf72 alleles were associated with specific symptoms, like cerebellar issues and sensory deficits, suggesting they may influence the clinical presentation of dementia.
The presence of small RNAs in sperm is a relatively recent discovery and little is currently known about their importance and functions. Environmental changes including social conditions and dietary manipulations are known to affect the composition and expression of some small RNAs in sperm and may elicit a physiological stress response resulting in an associated change in gamete miRNA profiles. Here, we tested how microRNA profiles in sperm are affected by variation in both sexual selection and dietary regimes in Drosophila melanogaster selection lines.
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