Cardiomyopathy and Kidney Disease in a Patient with Maternally Inherited Diabetes and Deafness Caused by the 3243A>G Mutation of Mitochondrial DNA

Cardiology ◽  
2010 ◽  
Vol 115 (1) ◽  
pp. 71-74 ◽  
Author(s):  
Olga Azevedo ◽  
Laura Vilarinho ◽  
Filipa Almeida ◽  
Francisco Ferreira ◽  
Joana Guardado ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Kidney Disease ◽  
Inherited Diabetes

Association Study of Mitochondrial DNA Haplogroup D and C5178A Polymorphisms with Chronic Kidney Disease

2021 ◽  
Vol 25 (8) ◽  
pp. 546-550
Author(s):  
Jiang-Hong Guo ◽  
Jian-Ming Shi ◽  
Guo-Ping Shi ◽  
Yong Wang ◽  
Xue-Feng Chu ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Mitochondrial Dna ◽  
Kidney Disease ◽  
Association Study

Abstract 381: Prolonged Renal Failure Leads to Reduced Number of Active Cardiac Mitochondria in a Rat Model for Long Term Chronic Kidney Disease

2015 ◽  
Vol 117 (suppl_1) ◽  
Author(s):  
Einat A Hertzberg-Bigelman ◽  
Michal Entin-Meer ◽  
Genya Aharon-Hananel ◽  
Ann Saada ◽  
Ran Levy ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Mitochondrial Dna ◽  
Kidney Disease ◽  
Cardiac Function ◽  
Rat Model ◽  
Dna Content ◽  
Cardiac Mitochondria ◽  
Mitochondrial Content ◽  
Mitochondrial Dna Content

Objectives - Cardiorenal syndrome type 4 is characterized by primary chronic kidney disease (CKD) leading to an impairment of cardiac function. We recently showed a reduced expression of several cardiac mitochondrial genes in short-term CKD rat model. We aimed to evaluate whether cardiac mitochondrial structure and function is modified in long-term CKD and if so, to characterize the potential associated mechanisms. Methods - Lewis rats underwent 5/6 nephrectomy for induction of CKD. Upon necroscopy, eight months later, cardiac sections were analyzed by histology and electron microscopy (EM). Mitochondrial DNA content was determined by the mitochondrial gene, cytochrome B. Mitochondrial content was assessed by citrate synthase (CS) activity in tissue homogenate and respiratory chain function was determined by the activity of complexes I-IV in isolated mitochondria. The levels of PGC1a, a transcription factor for mitochondrial biogenesis, Angiotensin II type 1 receptor and cytosolic cytochrome C were assayed by western blot. Cytokine serum profile was determined by microarray. Results - Long-term CKD leads to cardiac hypertrophy and increased interstitial fibrosis. EM analysis revealed a massive spatial disarrangement accompanied by a considerably increased volume of swollen-damaged mitochondria in CKD hearts (32±3%, n=5, 48±6%, n=4; respectively; p<0.05). Total mitochondrial DNA content was decreased in cardiac tissue of CKD rats. Concomitantly, active mitochondrial content was significantly reduced. Conversely, no differences were observed in respiratory chain enzymes’ functions (complexes I-IV) in isolated active mitochondria. Moreover, inflammatory response and activation of Renin-Angiotensin-Aldosterone-System (RAAS) were detected in the CKD setting. Conclusion - CKD results in a marked reduction of active mitochondria in the heart. Inflammatory cytokines and RAAS, may set a deleterious environment to cardiac mitochondria, as suggested in non-CKD models. The data may represent a significant milestone in the personalized medicine strategy for treating CKD patients who present with normal cardiac function accompanied by positive biomarkers for cardiac mitochondria damage.

scholarly journals Mitochondrial DNA copy number is associated with mortality and infections in a large cohort of patients with chronic kidney disease

2019 ◽  
Vol 96 (2) ◽  
pp. 480-488 ◽  
Author(s):  
Federica Fazzini ◽  
Claudia Lamina ◽  
Liane Fendt ◽  
Ulla T. Schultheiss ◽  
Fruzsina Kotsis ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Mitochondrial Dna ◽  
Kidney Disease ◽  
Copy Number ◽  
Large Cohort ◽  
Dna Copy Number ◽  
Mitochondrial Dna Copy Number

scholarly journals Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness

2008 ◽  
Vol 52 (8) ◽  
pp. 1228-1235 ◽  
Author(s):  
Daisy Crispim ◽  
Aline A. F. Estivalet ◽  
Israel Roisenberg ◽  
Jorge L. Gross ◽  
Luis H. Canani
Keyword(s):  
Type 2 Diabetes ◽  
Mitochondrial Dna ◽  
Classical Type ◽  
Diabetic Patients ◽  
Type 2 Diabetic Patients ◽  
Diabetes Group ◽  
Mtdna Mutations ◽  
Type 2 Diabetic ◽  
Inherited Diabetes

The aim of the present study is to investigate the prevalence of ten described mitochondrial DNA (mtDNA) mutations in patients with type 2 diabetes, and search for new mutations in four mtDNA genes in a subgroup of patients with characteristics of maternally inherited diabetes and deafness (MIDD). These mutations were investigated in 407 type 2 diabetic patients without characteristics of mitochondrial diabetes ("classical" type 2 diabetes group) and in 38 type 2 diabetic patients with characteristics suggestive of MIDD. Through sequencing of four mtDNA genes in MIDD patients, we selected five others potentially pathogenic mutations that were also screened in the remaining patients. Overall, the frequency of the fifteen analyzed mutations was 36.84% in the MIDD group and 2.45% in the "classical" type 2 diabetes group (p < 0.001). In conclusion, our study reinforces the importance of mtDNA mutations in the pathogenesis of MIDD.

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