Publications by authors named "Kristine Joyce Porto"
Article Synopsis
- A genome-wide association study (GWAS) on multiple system atrophy (MSA) was conducted using data from various populations including Japanese, Korean, Chinese, European, and North American samples.
- The study identified a significant genetic variant, rs2303744 on chromosome 19, which showed strong association with MSA in East Asian populations and was also significant in European/North American samples despite differences in allele frequencies.
- The associated variant leads to an amino acid change in the cPLA2γ enzyme, resulting in reduced enzymatic activity that could disrupt biological processes involving membrane phospholipids and α-synuclein, potentially contributing to the disease's development.
Congenital contractural arachnodactyly (CCA) is caused by pathogenic variants; however, the contributions of copy number variations (CNVs) to CCA are still unknown. Here, we report on a familial case of CCA, in which a novel multiexon deletion of exons 35-39 in was identified after simple CNV prediction.
View Article and Find Full Text PDFMultiple system atrophy (MSA) is a rare, late-onset, and devastating neurodegenerative disease characterized by autonomic failure, alongside with various combination of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. Since we first identified biallelic mutations in the COQ2 gene in two multiplex MSA families and further reported that heterozygous COQ2 V393A variant confers a susceptibility to sporadic MSA, the results of nearly a decade of investigating this association globally were quite remarkable. COQ2 V393A was virtually absent in the American and European populations but was shown to have varying associations with sporadic MSA in the East Asian populations.
View Article and Find Full Text PDF