Familial hemiplegic migraine (FHM) is a rare autosomal dominantly inherited subtype of migraine, in which hemiparesis occurs during the aura. The majority of the families carry mutations in the CACNA1A gene on chromosome 19p13 (FHM1). About 20% of FHM families is linked to chromosome 1q23 (FHM2), and has mutations in the ATP1A2 gene, encoding the alpha2-subunit of the Na,K-ATPase. Mutation analysis in a Dutch and a Turkish family with pure FHM revealed two novel de novo missense mutations, R593W and V628M, respectively. Cellular survival assays support the hypothesis that both mutations are disease-causative. The identification of the first de novo mutations underscores beyond any doubt the involvement of the ATP1A2 gene in FHM2.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/sj.ejhg.5201607 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
DriverDetector: An R package providing multiple statistical methods for cancer driver genes detection and tools for downstream analysis.
Heliyon
July 2024
Department of Breast Surgery, Institute of Breast Disease, Second Hospital of Dalian Medical University, Zhongshan Road, Dalian, 116023, Liaoning, China.
Identifying driver genes in cancer is a difficult task because of the heterogeneity of cancer as well as the complex interactions among genes. As sequencing data become more readily available, there is a growing need for detecting cancer driver genes based on statistical and mathematical modeling methods. Currently, plenty of driver gene identification algorithms have been published, but they fail to achieve consistent results.
View Article and Find Full Text PDFThe evolving threat of new pathogen variants in the face of global environmental changes poses a risk to a sustainable crop production. Predicting and responding to how climate change affects plant-pathosystems is challenging, as environment affects host-pathogen interactions from molecular to the community level, and with eco-evolutionary feedbacks at play. To address this knowledge gap, we studied short-term within-host eco-evolutionary changes in the pathogen, , on resistant and susceptible pepper in the open-top chambers (OTCs) under elevated Ozone (O) conditions in a single growing season.
View Article and Find Full Text PDFCharacteristics, outcomes and treatment patterns in acute myeloid leukemia patients 60 years or older in Colombia: a RENEHOC-PETHEMA study.
Ann Hematol
January 2025
Hematology Unit, Hospital Universitari i Politècnic La Fe, Valencia, España.
There is a limited information available on the clinical characteristics, treatment patterns and outcomes on older patients diagnosed with Acute Myeloid Leukemia (AML) in Latin-America. This multicenter retrospective study analyzed 269 patients over 60 years of age diagnosed with AML in Colombia, using data from RENEHOC-PETHEMA registry, from 2009 to 2023. The median age at diagnosis was 70 years (Range:60-98), 55% were men, 61% had an ECOG < 2, and 75.
View Article and Find Full Text PDFElucidating the role of pyrimidine metabolism in prostate cancer and its therapeutic implications.
Sci Rep
January 2025
Department of Emergency Medicine, Hengyang Medical School, The Affiliated Changsha Central Hospital, University of South China, Changsha, Hunan, China.
Our study aims to investigate the role of pyrimidine metabolism in prostate cancer and its associations with the immune microenvironment, drug sensitivity, and tumor mutation burden. Through transcriptomic and single-cell RNA sequencing analyses, we explored metabolic pathway enrichment, immune infiltration patterns, and differential gene expression in prostate cancer samples. The results showed that pyrimidine metabolism-related genes were significantly upregulated in the P2 subgroup compared to the P1 subgroup, with enhanced metabolic activity observed in basal and luminal epithelial cells.
View Article and Find Full Text PDFDefining 2 Biologically and Clinically Distinct Groups in Acute Leukemia with a Mixed Phenotype.
Blood
January 2025
Memorial Sloan Kettering Cancer Center, New York, New York, United States.
A mixed phenotype is characteristic of de novo Mixed Phenotype Acute Leukemia (MPAL) but can also be seen in other leukemias. It poses substantial classification and management dilemmas. Herein, we report a large cohort of acute leukemia with a mixed phenotype and define Acute Myeloid Leukemia with Mixed Phenotype (AML-MP) and MPAL as two distinct groups by characterizing the clinical, genetic, and transcriptomic features.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!