Publications by authors named "Katarina Vrabec"
Genetic studies have managed to explain many cases of familial amyotrophic lateral sclerosis (ALS) through mutations in several genes. However, the cause of a majority of sporadic cases remains unknown. Recently, epigenetics, especially miRNA studies, show some promising aspects.
View Article and Find Full Text PDFPurpose: To determine the spectrum of BEST1 mutations and to study the phenotype in Slovenian families with Best vitelliform macular dystrophy (BVMD) to identify genotype-phenotype correlations.
Methods: Twenty patients from five families underwent the ophthalmological examination including electrooculogram (EOG; N = 17), fundus autofluorescence imaging (N = 16) and optical coherence tomography (N = 14). Mutational screening was performed by direct DNA sequencing of the BEST1 gene.
Article Synopsis
- Researchers studied the genetic underpinnings of amyotrophic lateral sclerosis (ALS) by using data from 1,861 ALS patients and control subjects to create an imputation reference panel.
- They conducted detailed analyses involving over 36,000 participants, discovering new risk loci related to ALS on chromosome 21, specifically linking the gene C21orf2 to increased ALS risk.
- The findings suggest ALS has a complex genetic basis with many contributing factors, and emphasize the need for further research with larger samples to find rare genetic variants that could lead to a better understanding of ALS risk.
Amyotrophic lateral sclerosis (ALS) is a complex fatal neurodegenerative disease characterized by progressive degeneration and loss of upper motor neurons in the cerebral cortex and lower motor neurons in brainstem and spinal cord. We established the frequencies of mutations in 4 major ALS-associated genes, SOD1, TARDBP, FUS, and C9ORF72 in a representative cohort of 85 Slovenian patients with sporadic form of ALS. Pathogenic massive hexanucleotide repeat expansion mutation in C9ORF72 was detected in 5.
View Article and Find Full Text PDFBackground: The Slovenian territory is geographically positioned between the Alps, the Adriatic Sea, the Pannonian basin and the Dinaric Mountains and, as such, has served as a passageway for different populations over different periods of time. Turbulent historic events and the diverse geography of the region have produced a diverse contemporary population whose genetic analysis could provide insight into past demographic events.
Aim: The aim of this study was to analyse Y-chromosome biallelic and STR markers in a Slovenian population from five different regions.