An international researcher group has discovered the identity of genes that predispose people to chronic kidney disease.
The discovery is a major advance in understanding of the significantly under-diagnosed disorder which, if left undetected, can lead to failing kidneys that need dialysis or kidney transplantation.
The discovery of 35 kidney genes published in Nature Communications is an important step forward to the future development of new diagnostic tests and treatments for the disease that affects around one in ten adults.
Using 280 kidney transcriptomes and 9958 gene expression profiles from 44 non-renal tissues authors uncover gene expression partners (eGenes) for 88.9% of CKD-dt GWAS loci. Through epigenomic chromatin segmentation analysis and variant effect prediction we annotate functional consequences to 74% of these loci.
The colocalisation analysis and Mendelian randomisation in >130,000 subjects demonstrate causal effects of three eGenes (NAT8B, CASP9 and MUC1) on estimated glomerular filtration rate.
"Our limited knowledge of its exact genetic mechanisms partly explains why progress in the development of new diagnostic tests and treatments of chronic kidney disease has been so slow. We hope that some of the kidney genes we discovered may become attractive targets for the development of future diagnostics and treatment for patients with chronic kidney disease."
AUthors identify a common alternative splice variant in MUC1 (a gene responsible for rare Mendelian form of kidney disease) and observe increased renal expression of a specific MUC1 mRNA isoform as a plausible molecular mechanism of the GWAS association signal.
Co-author said: "One of the genes - mucin-1- is especially interesting."It makes a sticky protein called mucin that coats urinary tubes inside the kidney. Mutations of this gene have already been found in rare families with inherited kidney failure."
https://www.manchester.ac.uk/discover/news/revealed-35-kidney-genes-linked-to-chronic-kidney-disease-risk/
https://www.nature.com/articles/s41467-018-07260-4\
http://sciencemission.com/site/index.php?page=news&type=view&id=publications%2Fmolecular-insights-into&filter=22
35 kidney genes linked to chronic kidney disease risk
- 1,236 views
- Added
Edited
Latest News
Circadian rhythms can influ…
By newseditor
Posted 27 Apr
With hybrid brains, these m…
By newseditor
Posted 27 Apr
Blocking activation of NF-κ…
By newseditor
Posted 27 Apr
Vitamin D regulates microbi…
By newseditor
Posted 27 Apr
Role of alternative splicin…
By newseditor
Posted 27 Apr
Other Top Stories
Mitochondrial degradation from loss/mutation of a gene may lead to…
Read more
Being affectionate (hugger!) hereditary?
Read more
New tool Janggu to incorporate diverse genomic data into deep learn…
Read more
Why neurons have a longer life than other cells
Read more
Tauopathy in the young autistic brain
Read more
Protocols
A programmable targeted pro…
By newseditor
Posted 23 Apr
MemPrep, a new technology f…
By newseditor
Posted 08 Apr
A tangible method to assess…
By newseditor
Posted 08 Apr
Stem cell-derived vessels-o…
By newseditor
Posted 06 Apr
Single-cell biclustering fo…
By newseditor
Posted 01 Apr
Publications
Single dose creatine improv…
By newseditor
Posted 27 Apr
Autonomous circadian rhythm…
By newseditor
Posted 27 Apr
Functional sensory circuits…
By newseditor
Posted 27 Apr
Positive selection CRISPR s…
By newseditor
Posted 27 Apr
Focal clusters of peri-syna…
By newseditor
Posted 27 Apr
Presentations
Hydrogels in Drug Delivery
By newseditor
Posted 12 Apr
Lipids
By newseditor
Posted 31 Dec
Cell biology of carbohydrat…
By newseditor
Posted 29 Nov
RNA interference (RNAi)
By newseditor
Posted 23 Oct
RNA structure and functions
By newseditor
Posted 19 Oct
Posters
A chemical biology/modular…
By newseditor
Posted 22 Aug
Single-molecule covalent ma…
By newseditor
Posted 04 Jul
ASCO-2020-HEALTH SERVICES R…
By newseditor
Posted 23 Mar
ASCO-2020-HEAD AND NECK CANCER
By newseditor
Posted 23 Mar
ASCO-2020-GENITOURINARY CAN…
By newseditor
Posted 23 Mar