Mitochondrial redox sensing by the kinase ATM maintains cellular antioxidant capacity
Mitochondria are integral to cellular energy metabolism and ATP production and are involved in regulating many cellular processes. Mitochondria produce reactive oxygen species (ROS), which not only can damage cellular components but also participate in signal transduction. The kinase ATM, which is mutated in the neurodegenerative, autosomal recessive disease ataxia-telangiectasia (A-T), is a key player in the nuclear DNA damage response. However, ATM also performs a redox-sensing function mediated through formation of ROS-dependent disulfide-linked dimers. We found that mitochondria-derived hydrogen peroxide promoted ATM d...
Source: Signal Transduction Knowledge Environment - July 10, 2018 Category: Science Authors: Zhang, Y., Lee, J.-H., Paull, T. T., Gehrke, S., DAlessandro, A., Dou, Q., Gladyshev, V. N., Schroeder, E. A., Steyl, S. K., Christian, B. E., Shadel, G. S. Tags: STKE Research Articles Source Type: news

Gene Could Cause Missed Diabetes Diagnosis in African Americans Gene Could Cause Missed Diabetes Diagnosis in African Americans
The largest study of its kind finds a variant in G6PD gene could lead to inaccurate HbA1c results and missed type 2 diagnoses in African Americans. One in 10 black men, and one in 100 black women, could be affected.Medscape Medical News (Source: Medscape Medical News Headlines)
Source: Medscape Medical News Headlines - September 13, 2017 Category: Consumer Health News Tags: Diabetes & Endocrinology News Source Type: news

23andMe is back: FDA allows marketing of genetic health risk tests
[Image courtesy of 23andMe]FDA this month allowed genetic testing company 23andMe to market genetic health risk tests for 10 diseases and conditions including Parkinson’s disease and late-onset Alzheimer’s disease. The de novo premarket review authorization, announced April 6, also included celiac disease, which results in the inability to digest gluten; alpha-1 antitrypsin deficiency, which raises the risk of lung and liver disease; early-onset primary dystonia, a movement disorder; factor XI deficiency, a blood clotting disorder; Gaucher disease type 1, a disorder involving organs and tissue; glucose-6-p...
Source: Mass Device - April 21, 2017 Category: Medical Equipment Authors: Chris Newmarker Tags: Business/Financial News Diagnostics Food & Drug Administration (FDA) Genomics Molecular Diagnostics News Well Regulatory/Compliance 23andme 23andMe Inc. MedTech Source Type: news

Hereditary Spherocytosis
This article focuses on HS: its pathophysiology, clinical presentation in the neonatal period, natural history, and the relevant diagnostic features of evaluation. (Source: NeoReviews recent issues)
Source: NeoReviews recent issues - November 30, 2016 Category: Pediatrics Authors: Mahajan, V., Jain, S. K. Tags: Pediatric Drug Labeling Update Articles Source Type: news

Red blood cell traits associated with malaria risk in children
Certain red blood cell traits in children can increase or decrease their risk for malaria, researchers say. Researchers also found that a genetic condition known as homozygous X-linked G6PD deficiency correlated with a reduced risk of malaria in girls only. Meanwhile, HbC-trait, in which the body makes an abnormal hemoglobin called hemoglobin C, appeared to increase malaria risk in children. Scientists hope this study will lead to further research into the molecular mechanisms of the malaria-protective effects of red blood cell variants. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - March 24, 2015 Category: Science Source Type: news

What Medicines Should Be Avoided with G6PD Deficiency?
Discussion Glucose 6-phosphate dehydrogenase deficiency (G6PD) is an X-linked disease that has multiple mutations. Each mutation causes a different amount of the enzyme to be produced within cells and therefore not all mutations will produce disease. Glucose 6-phosphate dehydrogenase is an enzyme that is critical to the metabolism of all aerobic cells as it catalyzes the rate-limiting step of the pentose phosphate pathway reducing NADP to NADPH. NADPH is important for nucleic acid replication and therefore cell division. G6PD is the only source of NADPH within the cell, so deficiency makes red blood cells susceptible to he...
Source: - September 15, 2014 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Splenic artery pseudoaneurysm due to seatbelt injury in a glucose-6-phosphate dehydrogenase-deficient adult - Lau YZ, Lau YF, Lai KY, Lau CP.
A 23 year-old man presented with abdominal pain after suffering blunt trauma caused by a seatbelt injury. His low platelet count of 137 × 109/L was initially attributed to trauma and underlying hypersplenism due to glucose-6-phosphate dehydrogenase (G6PD)... (Source: SafetyLit: All (Unduplicated))
Source: SafetyLit: All (Unduplicated) - October 1, 2013 Category: Global & Universal Tags: Engineering, Physics, Structural Soundness and Failure Source Type: news

MedlinePlus: G6PD Deficiency
(Source: NLM General Announcements)
Source: NLM General Announcements - August 7, 2013 Category: Databases & Libraries Source Type: news