F. Salvatore

FRISSO, GIULIA

G. Limongelli

MAZZACCARA, CRISTINA

R. Calabrò

Archivio della ricerca - Università degli studi di Napoli Federico II

MITOCHONDRIAL MUTATIONAL EVENT IN AN ADULT PATIENT WITH RENAL FAILURE AND CARDIOMYOPATHYC. Mazzaccara1, G. Frisso1, G. Limongelli2, R. Calabrò2, F. Salvatore31CEINGE-Biotecnologie Avanzate, Naples, Italy and Department of Molecular Medicine and Medical Biotechnology,University of Naples Federico II, Naples, Italy2Cardiomyopathy and Inherited Heart Disease Clinic, UOC Cardiology, Second University of Naples, Naples, Italy3CEINGE-Biotecnologie Avanzate, Naples, Italy and IRCCS-Fondazione SDN, Naples, ItalyCase presentation: We investigated a 62 years old male affected by hypertrophic cardiomyopathy (HCM) and renal failu-re that caused already a bilateral transplantation. Pathological anamnesis revealed also diabetes, deafness and Crohndisease. Family history of cardiomyopathy in the mother and three brothers, one of which died of renal failure at 26 years,was also reported. These clinical features suggested us a mitochondrial involvement.Methods and Results: Genomic DNA from peripheral blood and buccal cells was extracted and the whole mitochondrialgenome was amplified by two pair of primers. The PCR products were then sequenced and compared to mitochondrial re-ference sequence (rCRS NC_012920). In both biological samples the mtDNA analysis showed the heteroplasmic A3243Gmutation in the tRNALeu (UUR), frequently associated with MDs. The interesting finding presented here support the know-ledge that mitochondrial gene altertation represents a possible etiology in cardiological patients with unexplained renalfailure. This is particularly true, as in this case, when other associated symtoms linked with dysfunctional oxidative pho-sphorylation are present.Discussion and Conclusion: Mitochondrial diseases (MDs) (10/100.000) represent a wide group of human disorders, exten-ding from isolated organ involvement to complex syndromes. MDs are caused by defects in oxidative phosphorylation duemainly to mitochondrial DNA alterations (mtDNA), while nuclear genome mutations are somewhat rare. The heterogeneousclinical phenotype, including neurological and non-neurological manifestations, depends on the tissue involved, specificmtDNA mutations and their heteroplasmic level. Diabetes and deafness are the most common features while adult renalimpairment is more rarely reported, probably because of lack of association to mitochondrial conventional phenotypes.Furthermore, cardiological involvement, leading to hypertrophic remodelling, occurs up to 40/50% of patients with MDs andthe mtDNA A3243G tRNALeu (UUR) mutation has been also associated with disease manifestation.The case presented in this report further suggests that a differential diagnosis in presence of HCM should be solved by amultidisciplinary approach together with mutation analysis of mitochondrial DNA.

Mitochondrial Mutational Event In An Adult Patient With Renal Failure And Cardiomyopathy

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Archivio della ricerca - Università degli studi di Napoli Federico II