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Genetic Landscape of Dystonia in Asian Indians.
Mov Disord Clin Pract
January 2025
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Article Synopsis
- The study aimed to identify genomic variations linked to dystonia in the Asian Indian population using next-generation sequencing.
- A total of 745 individuals were enrolled, and whole exome sequencing (WES) was performed on 267 patients, revealing pathogenic variants in 20.2% of them, including 14 novel variants.
- The gene THAP1 was found to be the most common associated with dystonia, and factors like multifocal/generalized distribution and family history increased the likelihood of finding positive results from WES.
Exploration of Novel Metabolic Features Reflecting Statin Sensitivity in Lung Cancer Cells.
Biol Pharm Bull
December 2024
Department of Veterinary Anatomy, School of Veterinary Medicine, Tottori University.
Article Synopsis
- Statins are drugs that lower cholesterol and have anti-cancer effects by inhibiting a key enzyme in cholesterol production.
- Research shows that the effectiveness of statins varies in different cancer cells, potentially linked to the presence of E-cadherin, which may act as a marker for statin sensitivity.
- Comparing gene expressions and metabolite levels in lung cancer cell lines revealed that statin-sensitive cells have lower cholesterol synthesis gene expression and reduced levels of related metabolites, indicating that these cells might have a limited capacity for cholesterol production and storage when treated with atorvastatin.
Case report: Asymmetric bilateral deep brain stimulation for the treatment of pantothenate kinase-associated neurodegeneration in a patient: a unique case of atypical PKAN with a novel heterozygous PANK2 mutation.
Front Hum Neurosci
October 2024
Department of Neurology, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University, The First Affiliated Hospital Southern University of Science and Technology), Shenzhen, China.
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive hereditary neurodegenerative disorder, usually caused by mutations in the pantothenate kinase 2 (PANK2) gene. We report a young female patient with atypical PKAN, harboring a novel heterozygous PANK2 mutation, diagnosed through clinical imaging and genetic analysis. The patient presented with dystonia and motor dysfunction after onset, but early brain MRI showed normal findings.
View Article and Find Full Text PDFDyslipidemia and hypercalciuria in a patient with pantothenate kinase 2 deficiency: A novel variant and case report.
SAGE Open Med Case Rep
April 2024
Department of Genetics, Yucatan Health Services, General Hospital "Dr. Agustin O'Horan", Yucatan, Mexico.
Pantothenate kinase-associated neurodegeneration (PKAN, OMIM: 234200) results from biallelic pathogenic variants in which encodes pantothenate kinase 2, a crucial mitochondrial enzyme involved in coenzyme A biosynthesis. Pantothenate kinase-associated neurodegeneration patients typically exhibit the distinctive "eye of the tiger" sign on brain magnetic resonance imaging in the globus pallidus, along with psychiatric symptoms, extrapyramidal movements such as parkinsonism and dystonia, eventual speech and gait impairments, and the presence of dysphagia. An 11-year-old girl, with fifth-degree consanguinity, demonstrated typical psychomotor development and growth until the age of 5, when she began experiencing psychiatric symptoms.
View Article and Find Full Text PDFGenetic Background of Blood β-Hydroxybutyrate Acid Concentrations in Early-Lactating Holstein Dairy Cows Based on Genome-Wide Association Analyses.
Genes (Basel)
March 2024
College of Animal Science and Technology, Henan Agricultural University, Zhengzhou 450046, China.
Ketosis is a common metabolic disorder in the early lactation of dairy cows. It is typically diagnosed by measuring the concentration of β-hydroxybutyrate (BHB) in the blood. This study aimed to estimate the genetic parameters of blood BHB and conducted a genome-wide association study (GWAS) based on the estimated breeding value.
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