Mitochondria are semi-autonomous organelles containing their own DNA (mtDNA), which exhibits a higher mutation rate compared to nuclear DNA. Accumulation of mtDNA mutations is associated with aging ...
Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...
Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...
The neurodevelomental disease Rett syndrome is usually caused by mutations in a gene called MECP2, which is located on the X chromosome. Patients lose coordination, mobility, and their ability to ...
From the time we are conceived and through old age, genetic mutations accumulate in all our tissues, eluding the body’s typically efficient DNA repair machinery and potentially affecting our health ...
An artificial intelligence model was shown to predict tumor mutation burden in lung cancer and other diseases. GigaPath, an artificial intelligence (AI) model, may predict cancer mutations including ...
A groundbreaking study published in this week’s issue of PNAS by scientists from Israel and Ghana shows that an evolutionarily significant mutation in the human APOL1 gene arises not randomly but more ...