DNA hypomethylation makes humans prone to diseases
22.05.2012 - A Polish-US research team has found that hypomethylation destablises DNA and boosts the risk of neurological diseases.
Warsaw/Houston –Bioinformaticians from Warsaw University and the Baylor College of Medicine have provided an explanation for how disease-associated mutation hotspots may arise. According to results of the group under Aleksandar Milosavljevic and Tomasz Gambin, regions on human chromosomes that carry only few so-called methylation marks show a tenfold higher number of structural mutations than the genome-wide average. Patients diagnosed with schizophrenia, bipolar disorder, developmental delay, and autism had a significant higher amount of such predetermined breaking points, (PloS Genetics 8(5): e1002692).
The researchers suggest that the amount of methylation might mediate genomic stability. They compared methylome maps from human sperm cell samples with publicly available structural variation data. Their results points to a strong association of germline hypomethylation and genomic instability which might lead to new diagnostic and therapeutic approaches. "We have found that these rare and de novo structural variants, as well as changes of the human genome that have accumulated the fastest since the branching chimpanzee, are significantly concentrated within methylation deserts," senior author Aleksandar Milosavljevic, a molecular and human genetics researcher at Baylor College of Medicine, said in a statement.
Lack of methylation of genomic DNA has been previously associated with high structural mutability in gibbons and in human cancer cells, but the association with structural mutability in the human germline has not been explored prior to this study.
20.01.2015 Ebola research projects are set to receive €215m in funding from the European Commission’s IMI2 Ebola+ programme. Among the project partners are vaccine developers Glaxosmithkline, Johnson&Johnson and Merck.
13.01.2015 Shire beefs up its rare disease portfolio after acquiring NPS Pharma with the aim of becoming a leading biotech in a US$5.2bn deal. Part of the deal is the US biotech's lead portfolio of gastrointestinal and hormone replacement therapies.
09.01.2015 The excitement surrounding CRISPR genome editing shows no sign of abating. This month, Novartis and US biotech Intellia Therapeutics became the first ever biotech-pharma collaboration to use the groundbreaking technology.
06.01.2015 With the aim to utilise Ireland’s many natural resources and keep abreast of the latest EU developments in bioeconomy, a multi-disciplinary team has been funded to maximise national income, exports and job creation related to Ireland’s bioeconomy.