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| http://dx.doi.org/10.1186/s12931-022-02252-x | DOI Listing |
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Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts.
NPJ Genom Med
December 2024
School of Clinical Medicine, UNSW Medicine & Health, UNSW Sydney, Kensington, Sydney, NSW, Australia.
Autosomal Dominant Polycystic Kidney Disease (ADPKD) results in progressive cysts that lead to kidney failure, and is caused by heterozygous germline variants in PKD1 or PKD2. Cyst pathogenesis is not definitively understood. Somatic second-hit mutations have been implicated in cyst pathogenesis, though technical sequencing challenges have limited investigation.
View Article and Find Full Text PDFTrypsin Digestion Conditions of Human Plasma for Observation of Peptides and Proteins from Tandem Mass Spectrometry.
ACS Omega
October 2024
Research Analytical Biochemistry Laboratory, Department of Chemistry and Biology, Toronto Metropolitan University, Toronto M5B 2K3, Canada.
Previous meta-analysis indicated that plasma or serum proteome groups using various experimental conditions detected different peptides from the same plasma proteins, which is strong evidence for the veracity of blood fluid LC-ESI-MS/MS but also evidences that the trypsin digestion step is a key source of variation in plasma proteomics. Agreement between different digestion conditions and MS/MS algorithms may serve as an independent confirmation of the validity of the LC-ESI-MS/MS analysis of plasma peptides. Plasma contains a high percentage of albumin held together by multiple disulfide bonds; hence, reduction and/or alkylation may greatly enhance the digestion efficiency of albumin.
View Article and Find Full Text PDFUnusual familial cystic kidney disease: combining fine radiologic and genetic evaluation to solve the case.
BMC Nephrol
September 2024
Service de Néphrologie-Dialyse Adultes, AP-HP-Centre, Université Paris Cité, Hôpital Necker Enfants Malades, 75015, Paris, France.
Article Synopsis
- Autosomal dominant polycystic kidney disease (ADPKD) is a common hereditary kidney condition that causes enlarged kidneys with cysts, high blood pressure, and other complications, making accurate diagnosis essential, especially without clear family history.
- In a case study of three family members, two sisters were initially misdiagnosed with ADPKD based on imaging, but further MRI and genetic tests ruled it out, showing the importance of advanced testing in diagnosis.
- The younger daughter was confirmed to have ADPKD through genetic testing, highlighting the variability of the disease and the need for careful diagnostic approaches to ensure appropriate treatment and avoid patient distress.
ALTERATIONS IN HISTIDINE METABOLISM IS A FEATURE OF EARLY AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD).
Trans Am Clin Climatol Assoc
August 2024
Chicago, Illinois.
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by epithelial proliferation and progressive cyst enlargement. Using a non-targeted high-resolution metabolomics approach, we analyzed biofluids from 36 ADPKD and 18 healthy controls with estimated glomerular filtration rate (eGFR) > 60 ml/min to identify features specific to ADPKD or that associate with disease severity [eGFR or height-corrected total kidney volume (htTKV)]. Multiple pathways differed between ADPKD subjects and controls, with the histidine pathway being the most highly represented.
View Article and Find Full Text PDFGenome editing and kidney health.
Clin Kidney J
May 2024
Bristol Renal, University of Bristol, Dorothy Hodgkin Building, Whitson Street, Bristol, UK.
Article Synopsis
- CRISPR-Cas technologies have transformed genetic engineering, showing potential in treating genetic diseases like chronic kidney disease (CKD), which can be caused by different mutations.
- Recent advances in genomic sequencing combined with CRISPR enable precise correction of mutations, especially in monogenic diseases, offering hope for treating conditions such as polycystic kidney disease and Alport syndrome.
- Innovations like prime editing and base editing improve genome editing efficiency and specificity without causing harmful DNA breaks, but challenges remain in developing effective delivery methods for therapies.
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