Articles tagged with Mosaicism
Researchers identified novel truncated RNAs from jumping genes that encode reverse transcriptases in the aging human brain, particularly in neurons. This discovery may provide new insights into Alzheimer's disease and potential therapeutic targets.
Researchers have discovered a novel mechanism for the origin of brain chromosomal mosaicism, linking it to chromosome 1q gain in astrocytes. This association has implications for understanding the genetic causes of epilepsy, particularly drug-resistant seizures.
A research team has identified a link between calcium imbalances and the progression of brain damage in children with rare genetic conditions. They found that stabilizing calcium levels could be a target for new treatments to prevent further deterioration.
The Somatic Mosaicism across Human Tissues (SMaHT) Network aims to identify and catalog genetic variants in different individuals, enabling research into development, aging and disorders. A $15 million grant from the NIH Common Fund supports this project, led by Dr. Ting Wang and co-led by Dr. Hui Shen.
Two NYGC research teams have been selected as grant recipients under the NIH Common Fund SMaHT Network. The first team will generate a high-quality somatic variant catalog leveraging three core sequencing assays, while the second team will develop innovative tools for studying somatic mosaicism using a single-cell multi-omics approach.
Researchers used nanopore sequencing to detect specific genomic disorders in a fraction of the time it takes traditional testing. The study showed that diagnosis of larger chromosomal alterations could be made in one day, while smaller CNVs took two days.
A study found that many IVF embryos with chromosomal abnormalities have the potential to lead to successful pregnancies. Embryos with low-grade mosaicism had similar live birth rates and miscarriage rates as euploid embryos.
A four-year study using advanced computational methods has found that IVF embryos do not have a higher risk of chromosomal abnormalities than naturally conceived children. The study, published in Nature Medicine, analyzed the genetic makeup of live-born children and found no evidence of cell lines with chromosomal aberrations.
Researchers found functional mosaicism, where individual cells use different protein molecules to carry out the same function, which could explain antibiotic resistance and cancer relapse. This discovery suggests that therapeutic treatments may not be effective against all cells of the same type.
Scientists at the University of Virginia Health System identified a potential explanation for the death of specific brain cells seen in Alzheimer's and Parkinson's diseases. The discovery suggests that naturally occurring gene variation, called 'somatic mosaicism,' may be responsible for this selective vulnerability.
Researchers found diverse genomic changes in single neurons from Alzheimer's patients, showing that over 90% of sporadic Alzheimer's disease brains display highly significant DNA increases. Neurons from patients with sporadic Alzheimer's disease were four times as likely to contain more than two copies of the Alzheimer's-linked gene APP.
A recent study by an international team of scientists has clarified the frequency and influence of mosaicism in genomic disorders. Mosaicism was found to be much more common than previously thought, contributing significantly to recurrence risk in future offspring.
Research suggests that X-linked genes determine sex differences in disease, with males more vulnerable to deleterious mutations due to having only one copy of the gene. Females, on the other hand, have a backup copy, allowing them to mitigate the effect of mutations and expressing genes in a mixture of cells.
Researchers at the University of Florida found that preimplantation genetic diagnosis is highly reliable, but a small margin of error exists due to chromosomal mosaicism. This phenomenon can lead to inaccurate diagnoses, with up to 50% of embryos showing mosaic cells.
Researchers found a defect in the ATP2C1 gene causing type 2 mosaicism in Hailey-Hailey disease. Skin cells from patterned lesions possessed the mutant gene, while others had the normal chromosome.