Scientists found that some inherited traits can bypass the traditional rules of genetics, revealing a surprising new layer of ...

We conducted an in-depth longitudinal study on an individual carrying the presenilin 2 p.Asn141Ile mutation, traditionally associated with dominantly inherited Alzheimer’s disease (AD), who has ...

University of Queensland researchers have discovered a mechanism in DNA that regulates how disease-causing mutations are inherited. Dr. Anne Hahn and Associate Professor Steven Zuryn from UQ's ...

Molecular disease mechanisms caused by mutations in protein-coding regions are diverse, but they can be broadly categorised into loss-of-function, gain-of-function and dominant-negative effects.

Researchers from Karolinska Institutet have discovered how mammalian cells prevent the gradual buildup of harmful mutations in mitochondrial DNA, the small but vital genome that powers every cell. The ...

Rudolf Virchow, a 19th-century Prussian pathologist, considered organisms a kind of “cellular democracy,” a harmonious republic of cooperating cells. Wilhelm Roux, who studied under Virchow and later ...

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 ...

While most known types of DNA damage are fixed by our cells' in-house DNA repair mechanisms, some forms of DNA damage evade repair and can persist for many years, new research shows. This means that ...