scholarly journals The First COL4A5 Exon 41A Glycine Substitution in a Family With Alport Syndrome

2020 ◽  
Vol 8 ◽  
Author(s):  
Fang Wang ◽  
Dan Zhao ◽  
Jie Ding ◽  
Xuejuan Li
Keyword(s):  
Alport Syndrome ◽  
Glycine Substitution

scholarly journals A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome

2020 ◽  
pp. 100053
Author(s):  
Christoforos Odiatis ◽  
Isavella Savva ◽  
Myrtani Pieri ◽  
Pavlos Ioannou ◽  
Petros Petrou ◽  
...  
Keyword(s):  
Alport Syndrome ◽  
Late Onset ◽  
Glycine Substitution ◽  
Collagenous Domain

Alport Syndrome mutation changes molecular structure and nanomechanics of type IV tropocollagen

2009 ◽  
Vol 1187 ◽  
Author(s):  
Maya Srinivasan ◽  
Sebastien G.M. Uzel ◽  
Alfonso Gautieri ◽  
Sinan Keten ◽  
Markus J Buehler
Keyword(s):  
Single Molecule ◽  
Alport Syndrome ◽  
Severe Form ◽  
Collagen Type Iv ◽  
Mutation Site ◽  
Single Molecule Level ◽  
Type Iv ◽  
Glycine Substitution ◽  
Amino Acid Mutations ◽  
Inherited Kidney Disease

AbstractAlport Syndrome is a genetic disease characterized by the breakdown of the glomerular basement membrane (GBM) around blood vessels in the kidney, leading to kidney failure in most patients. It is the second most inherited kidney disease in the US, and many other symptoms are associated with the disease, including hearing loss and ocular lesions. Here we probe the molecular level mechanisms of this disease utilizing a bottom-up computational materiomics approach focused on the mutation associated with the most severe form of Alport Syndrome. Since the GBM is under constant mechanical loading due to blood flow, changes in mechanical properties due to amino acid mutations may be critical in the symptomatic GBM breakdown seen in Alport Syndrome patients. Through full-atomistic simulations in explicit solvent, the effects of a single-residue glycine substitution mutation are studied in a short segment of a collagen type IV tropocollagen molecule. Major changes are observed at the single molecule level of the mutated sequence, including a bent shape of the structures after equilibration with the kink located at the mutation site and a significant alteration of the molecule’s stress-strain response and stiffness.

Initial Next-Generation Sequencing (NGS) Results of Alport Syndrome

2019 ◽  
Author(s):  
Altuğ Koç ◽  
Elçin Bora ◽  
Tayfun Cinleti ◽  
Gizem Yıldız ◽  
Meral Torun Bayram ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Alport Syndrome ◽  
Next Generation ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

scholarly journals Sodium-Glucose Cotransporter-2 Inhibitors in Patients with Hereditary Podocytopathies, Alport Syndrome, and FSGS: A Case Series to Better Plan a Large-Scale Study

Cells ◽  
2021 ◽  
Vol 10 (7) ◽  
pp. 1815
Author(s):  
Jan Boeckhaus ◽  
Oliver Gross
Keyword(s):  
Glomerular Filtration ◽  
Alport Syndrome ◽  
Large Scale ◽  
Case Series ◽  
Hereditary Diseases ◽  
Glomerular Filtration Barrier ◽  
Early Effect ◽  
Filtration Barrier ◽  
First Case ◽  
Sodium Glucose Cotransporter

Hereditary diseases of the glomerular filtration barrier are characterized by a more vulnerable glomerular basement membrane and dysfunctional podocytes. Recent clinical trials have demonstrated the nephroprotective effect of sodium-glucose cotransporter-2 inhibitors (SGLT2i) in chronic kidney disease (CKD). SGLT2-mediated afferent arteriole vasoconstriction is hypothesized to correct the hemodynamic overload of the glomerular filtration barrier in hereditary podocytopathies. To test this hypothesis, we report data in a case series of patients with Alport syndrome and focal segmental glomerulosclerosis (FSGS) with respect of the early effect of SGLT2i on the kidney function. Mean duration of treatment was 4.5 (±2.9) months. Mean serum creatinine before and after SGLT-2i initiation was 1.46 (±0.42) and 1.58 (±0.55) mg/dL, respectively, with a median estimated glomerular filtration rate of 64 (±27) before and 64 (±32) mL/min/1.73 m2 after initiation of SGLT2i. Mean urinary albumin-creatinine ratio in mg/g creatinine before SGLT-2i initiation was 1827 (±1560) and decreased by almost 40% to 1127 (±854) after SGLT2i initiation. To our knowledge, this is the first case series on the effect and safety of SGLT2i in patients with hereditary podocytopathies. Specific large-scale trials in podocytopathies are needed to confirm our findings in this population with a tremendous unmet medical need for more effective, early on, and safe nephroprotective therapies.

scholarly journals Mother-son kidney transplantation in patients with X-linked Alport syndrome

2021 ◽  
Author(s):  
Kan Katayama ◽  
Kouhei Nishikawa ◽  
Atsuya Hane ◽  
Mika Fujimoto ◽  
Ryosuke Saiki ◽  
...  
Keyword(s):  
Kidney Transplantation ◽  
Alport Syndrome
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