genetic

Long COVID-related blood-brain barrier breakdown and microstructure in older adults are modified by sex and Alzheimer’s disease genetic risk Emilie T. Reas, Austin Alderson-Myers, Seraphina K. Solders, Qian Shen, Charlotte S. Rivera, Xin Wang, Jordan Stiver, Sarah J. Banks, Jennifer S. Graves...

Abstract: Long COVID represents a significant global health challenge with an unclear etiology. Alongside accumulating evidence of mitochondrial dysfunction in patients with acute SARS-CoV-2 infection, a symptomatic overlap exists between long COVID and mitochondrial disorders. However, the...

Similar Ehlers–Danlos Syndrome Profiles Produced by Variants in Multiple Collagen Genes Sahil S Tonk, Golder N Wilson Background Despite increased attention to double-jointedness or joint hypermobility as seen in connective tissue dysplasias like Ehlers–Danlos syndrome, improved clinical DNA...

SequenceME: first of a kind genetic study December 16, 2024 A groundbreaking partnership has launched today. The partners are working together to secure funding for a study which will analyse the entire genetic code of up to 17,000 people with Myalgic Encephalomyelitis (ME) in a bid to uncover...

Combinations of single nucleotide polymorphisms in neuroendocrine effector and receptor genes predict chronic fatigue syndrome Benjamin N Goertzel , Cassio Pennachin, Lucio de Souza Coelho, Brian Gurbaxani, Elizabeth M Maloney, James F Jones Objective: This paper asks whether the presence...

Molecular study of receptor for advanced glycation endproduct gene promoter and identification of specific HLA haplotypes possibly involved in chronic fatigue syndrome N Carlo-Stella, S Bozzini, A De Silvestri, I Sbarsi, C Pizzochero, L Lorusso, M Martinetti, M Cuccia Abstract The receptor...

From SciTech Daily Researchers have discovered a “spatial grammar” in DNA A recently uncovered code within DNA, referred to as “spatial grammar,” may unlock the secret to how gene activity is encoded in the human genome...

Abstract Introduction Gulf War illness (GWI) is an environmentally-triggered chronic multisymptom illness typified by protean symptoms, in which mitochondrial impairment is evident. It has been likened to accelerated aging. Nuclear genetics of detoxification have been linked to GWI. Objective...

https://www.hindawi.com/journals/crig/2024/6475425/ Full title: Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein–Barr Virus Abstract Myalgic...

APOE4/4 is linked to damaging lipid droplets in Alzheimer’s disease microglia Haney, Michael S.; Pálovics, Róbert; Munson, Christy Nicole; Long, Chris; Johansson, Patrik K.; Yip, Oscar; Dong, Wentao; Rawat, Eshaan; West, Elizabeth; Schlachetzki, Johannes C. M.; Tsai, Andy; Guldner, Ian Hunter...

Abstract Raynaud’s phenomenon (RP) is a common vasospastic disorder that causes severe pain and ulcers, but despite its high reported heritability, no causal genes have been robustly identified. We conducted a genome-wide association study including 5,147 RP cases and 439,294 controls, based...

Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of unexplained severe fatigue Abstract Background Causative genetic variants cannot yet be found for many disorders with a clear heritable component, including...

[A study from 2009.] Abstract Chronic fatigue syndrome (CFS) is characterized by debilitating fatigue, often accompanied by widespread muscle pain that meets criteria for fibromyalgia syndrome (FMS). Symptoms become markedly worse after exercise. Previous studies implicated dysregulation of...

A common allele of HLA is associated with asymptomatic SARS-CoV-2 infection Abstract Studies have demonstrated that at least 20% of individuals infected with SARS-CoV-2 remain asymptomatic1,2,3,4. Although most global efforts have focused on severe illness in COVID-19, examining asymptomatic...

I felt like writing about this. In my opinion ME/CFS is probably a label for several different poorly understood illnesses that happen to share some characteristics and which do not yet have their own name. We might call them subtypes of ME/CFS. Then, in a ME/CFS cohort there is probably also a...

Post copied from the DecodeME thread: I agree the 85% response rate is fantastic - unheard of really. Decode ME is such a brilliant study. On a related note, I found the following UCSF and University of Cambridge study on MS, published yesterday, interesting: Scientists identify first genetic...

Abstract Nucleotide-binding oligomerization domain-containing protein 2 (NOD2) is a protein encoded by the NOD2 gene and plays an important role in the immune system. NOD2 is an intracellular pattern recognition receptor (PRR) responsible for the recognition of pathogens as well as the...

Abstract (only): Exploring the Genetic Contribution to Oxidative Stress in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Nicholas Henry Hampilos1 , Arnaud Germain2 , Xiangling Mao1 , Maureen R. Hanson2 , Dikoma C. Shungu1 1 Weill Cornell Medicine 2 Cornell University...

BBC: Thousands of children with severe developmental disorders have finally been given a diagnosis, in a study that found 60 new diseases. Children, and their parents, had their genetic code - or DNA - analysed in the search for answers to their condition. There are thousands of different...

Whole genome sequencing - NHS (I had a request to share some of my information about whole genome sequencing on a public thread so more people could find it :)) Ok so because I’ve been reading a lot about whole genome sequencing (on the NHS) recently, and I’ve gone through it all myself, I...