Genes associated with hearing loss visualised in new study
Researchers at IGP and the Department of Surgical Sciences have shown in a new study that differences in the risk of age-related hearing loss is partly due to genetic factors that affect structures and functions in the human inner ear. The study was recently published in BMC Medicine.
Age-related hearing loss is the most common form of hearing loss. In the new study, IGP researchers Mathias Rask-Andersen and Åsa Johansson, together with Wei Liu and Helge Rask-Andersen at the Department of Surgical Sciences, have performed functional follow-up studies of candidate genes identified in from genome-wide association studies by analysis in the human inner ear. Using high-resolution microscopy, they could detect and visualize proteins associated with hearing loss. The study shows that age-related hearing loss is to some extent caused by genetic factors.
Genetic background associated with physically active lifestyle
In a large international study, researchers at IGP have identified DNA regions that are associated with physical activity or leisure screen time. The findings confirm that physical activity is beneficial for health and suggest that a more sedentary lifestyle can be due to how the muscles respond to exercise.
Blood clot formation in cerebral cavernous malformations
Blood coagulation and blood clot formation are relevant for the disease cerebral cavernoma, CCM. Therefore, antithrombotic therapy may be beneficial for cavernoma patients. This is shown in a new study from IGP.
Y chromosome loss causes heart failure and death from cardiovascular disease
Loss of the Y chromosome in blood cells of men is associated with disease and mortality, but no clear causal relationship has previously been identified. Now, researchers from IGP show in an international study in the journal Science that loss of the Y chromosome in white blood cells causes development of fibrosis in the heart, impaired heart function and death from cardiovascular diseases in men.
Alternative promising approach for sensitive protein detection
Researchers at IGP have developed a new method to detect proteins with high specificity and sensitivity that could be use in future diagnostic analyses of patient samples.
Oral contraceptives and hormone treatment increase stroke risk
A new study from IGP show that oral contraceptives and also hormone replacement therapy at menopause increase the risk of stroke. The increased risk was largest during the first year of treatment, after which it declined. The study, which is now published in the journal Stroke, is based on data from more than a quarter of a million women from the database UK Biobank.
Rare genetic variants are not the main cause of common diseases
Although some rare variants can significantly increase the risk of disease for a few individuals, the majority of the genetic contribution to common diseases is due to a combination of many common genetic variants with small effects. This is shown by researchers at IGP and other departments at Uppsala University in a new comprehensive study published in the journal Nature Communications.
Subgroups of brain tumours associated with cell origin and disease prognosis
Researchers at IGP have detected different subgroups of the brain tumour form glioblastoma, where the cancer cells’ properties depend on which cell type they originate from. The used analysis method could also separate glioblastoma patients with significant differences in survival. The findings open up for identifying specific therapeutic targets for the new subgroups of glioblastoma.
Armed CAR-T cells to better fight cancer
Immunotherapy is increasingly becoming a successful way to treat cancer. Researchers at IGP have now developed armed CAR-T cells that reinforce the immune defence against cancer and that could increase the possibilities to successfully treat solid tumours. The study has been published in the journal Nature BioMedical Engineering.
Inflammation and net-like protein structures in cerebral cavernous malformations
In the condition known as cavernoma, lesions arise in a cluster of blood vessels in the brain, spinal cord or retina. Researchers at IGP now show in a new study that white blood cells and protein structures associated with the immune response infiltrate the vessel lesions. The findings support that inflammation has a role in the development of cavernoma and indicate a potential biomarker for the disease.
Protein landscape on cancer cells mapped with new technology
In recent years, great advances have been made in the development of new, successful immunotherapies to treat cancer. Two types of targeted immunotherapies that have revolutionised areas of cancer care are CAR T-cell therapy and antibody treatments. However, there are still significant challenges in the identification of cancer cell surface proteins that function as targets for immunotherapies. Mattias Belting, professor at Lund University and senior consultant at Skåne University Hospital, and guest professor at IGP, is well on the way and his group’s findings are now published in the journal PNAS.
CRISPR-Cas9 can generate unexpected, heritable mutations
CRISPR-Cas9, the “genetic scissors”, creates new potential for curing diseases; but treatments must be reliable. In a new study, researchers have discovered that the method can give rise to unforeseen changes in DNA that can be inherited by the next generation. These scientists therefore urge caution and meticulous validation before using CRISPR-Cas9 for medical purposes.
New technology to study DNA in archived tissue samples
Researchers at IGP have developed a technology that allows studies of DNA profiles in archived tissue samples. The technology permits investigators to better understand regulation of gene activity in cancer and precision medicine.
New genes associated with relapse of acute myeloid leukemia
In the blood cancer type acute myeloid leukemia, it is common that patients relapse some time after treatment. Researchers from IGP have in a new study identified genes that seem to be associated with the risk of relapse. The findings may form the basis for new treatment strategies and contribute to better survival for patients with acute myeloid leukemia.