Low bone mineral density due to secondary hyperparathyroidism in the<i>Gla<sup>tm</sup>Tg(CAG‐A4GALT)</i>mouse model of Fabry disease

Maruyama, Haruhiko; Taguchi, Atsumi; Mikame, Mariko; Lu, Hongmei; Tada, Norio; Ishijima, Muneaki; Kaneko, Haruka; Kawai, Mariko; Goto, Sawako; Saito, Akihiko; Ohashi, Riuko; Nishikawa, Yuji; Ishii, Satoshi

doi:10.1096/fba.2019-00080

Cited by 9 publications

(5 citation statements)

References 46 publications

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“…Moreover, in our patient carrying this variant we also observed a 50% reduction in enzymatic activity, when compared to control patients. Clinically this female patient showed some clinical features that are known to be associated with Fabry disease, such as bone involvement [34]. Indeed, secondary osteoporosis can be associated with decreased intestinal vitamin D absorption, which is in turn associated with several mechanisms that precede the onset of Fabry disease.…”

Section: Discussionmentioning

confidence: 77%

What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management

Mitrotti,

Di Bari,

Giliberti

et al. 2024

IJMS

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Between 15–20% of patients with end stage renal disease (ESRD) do not know the cause of the primary kidney disease and can develop complications after kidney transplantation. We performed a genetic screening in 300 patients with kidney transplantation, or undiagnosed primary renal disease, in order to identify the primary disease cause and discriminate between overlapping phenotypes. We used a custom-made panel for next-generation sequencing (Agilent technology, Santa Clara, CA, USA), including genes associated with Fabry disease, podocytopaties, complement-mediated nephropathies and Alport syndrome-related diseases. We detected candidate diagnostic variants in genes associated with nephrotic syndrome and Focal Segmental Glomerulosclerosis (FSGS) in 29 out of 300 patients, solving about 10% of the probands. We also identified the same genetic cause of the disease (PAX2: c.1266dupC) in three family members with different clinical diagnoses. Interestingly we also found one female patient carrying a novel missense variant, c.1259C>A (p.Thr420Lys), in the GLA gene not previously associated with Fabry disease, which is in silico defined as a likely pathogenic and destabilizing, and associated with a mild alteration in GLA enzymatic activity. The identification of the specific genetic background may provide an opportunity to evaluate the risk of recurrence of the primary disease, especially among patient candidates living with a donor kidney transplant.

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Section: Discussionmentioning

confidence: 77%

What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management

Mitrotti,

Di Bari,

Giliberti

et al. 2024

IJMS

View full text Add to dashboard Cite

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“…In one previous study the authors tried to elucidate the pathomechanism of calcium-phosphate disturbances in patients with FD using a mouse model GlatmTg (CAG-A4GALT). The study results showed a relationship between hypercalcemia and hypercalciuria and secondary hyperthyroidism (27). This may suggest that patients with FD are at increased risk of accelerated bone resorption and osteomalacia (28).…”

Section: Wwwirdrjournalcommentioning

confidence: 83%

Serum neurofilament light chain is not a useful biomarker of central nervous system involvement in women with Fabry disease

Hołub

Kędzierska

Muras-Szwedziak

et al. 2021

IRDR

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“…However, commercially available antibodies, ab206655 and ABN182 showed unacceptable results. These antibodies have been used for Western blotting and immunohistochemistry in many studies (26)(27)(28)(29)(30)(31)(32)(33)(34), and have caused the idea that Cyp27b1 is present in many tissues other than the kidney. In general, choosing an inappropriate antibody is a major hindrance in advancing research, but in the case of Cyp27b1 antibodies, inappropriate antibodies have been overlooked so far.…”

Section: Discussionmentioning

confidence: 99%

Expression of Rat Cyp27b1 in HepG2 Cells Using Adenovirus Vector and Its Application to Evaluation of Self-Made and Commercially Available Anti-Cyp27b1 Antibodies

Nagao

Kise

Iijima

et al. 2023

J Nutr Sci Vitaminol

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Rat Cyp27b1 was successfully expressed in HepG2 cells using an adenovirus vector. High vitamin D 1a-hydroxylation activity was detected in them, whereas no activity was observed in non-infected cells. Similarly, vitamin D 1a-hydroxylation activity was also observed in HepG2 cells expressing Cyp27b1-Flag, which is tagged with a Flag at the C-terminus of Cyp27b1. Western blot analysis using an anti-Flag antibody showed a clear band of Cyp27b1-Flag. Next, we screened three types of anti-Cyp27b1 antibodies, which consist of two commercially available antibodies and our self-made antibody using Cyp27b1-or Cyp27b1-Flag expressing HepG2 cell lysate as a positive control. Surprisingly, Western blot analysis revealed that two commercially available antibodies did not detect Cyp27b1 but specifically detect other proteins. In contrast, our self-made antisera specifically detected Cyp27b1 and Cyp27b1-Flag in the HepG2 cells expressing Cyp27b1 or Cyp27b1-Flag. These commercially available antibodies have been used for the detection of Cyp27b1 by Western blotting and immunohistochemistry. Our results suggest that those data should be reanalyzed.

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Low bone mineral density due to secondary hyperparathyroidism in theGla^tmTg(CAG‐A4GALT)mouse model of Fabry disease

Abstract: This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Cited by 9 publications

References 46 publications

What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management

What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management

Serum neurofilament light chain is not a useful biomarker of central nervous system involvement in women with Fabry disease

Expression of Rat Cyp27b1 in HepG2 Cells Using Adenovirus Vector and Its Application to Evaluation of Self-Made and Commercially Available Anti-Cyp27b1 Antibodies

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Low bone mineral density due to secondary hyperparathyroidism in theGlatmTg(CAG‐A4GALT)mouse model of Fabry disease

Abstract: This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Cited by 9 publications

References 46 publications

What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management

What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management

Serum neurofilament light chain is not a useful biomarker of central nervous system involvement in women with Fabry disease

Expression of Rat Cyp27b1 in HepG2 Cells Using Adenovirus Vector and Its Application to Evaluation of Self-Made and Commercially Available Anti-Cyp27b1 Antibodies

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Low bone mineral density due to secondary hyperparathyroidism in theGla^tmTg(CAG‐A4GALT)mouse model of Fabry disease