Accelerated cardiomyopathy in maternally inherited diabetes and deafness

International Journal of Clinical Pharmacology Research

Volumn 24, Issue 1, 2004, Pages 15-21

  Mangiafico, R A ^a,c   Zeviani, M ^b   Bartoloni, G ^a   Fiore, C E ^a  

^a UNIVERSITY OF CATANIA   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c UNIVERSITY OF CATANIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; ADENINE; CREATINE KINASE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; GLUCOSE; GUANINE; HEMOGLOBIN A1C; INSULIN; LACTIC ACID; LEUCINE; MITOCHONDRIAL DNA; NITRATE; NUCLEOTIDE; TRANSFER RNA;

ADULT; ANGIOCARDIOGRAPHY; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CLINICAL FEATURE; CONGESTIVE HEART FAILURE; DIABETES MELLITUS; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FEMALE; HEARING IMPAIRMENT; HEART CATHETERIZATION; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE BIOPSY; HOLTER MONITORING; HUMAN; HUMAN CELL; MICROSCOPY; MUTATION; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PR INTERVAL; QRS COMPLEX; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADOLESCENT; ADULT; DEAFNESS; DIABETES MELLITUS; DNA, MITOCHONDRIAL; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FATAL OUTCOME; FEMALE; HEART FAILURE, CONGESTIVE; HUMANS; MIDDLE AGED; PEDIGREE; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA, TRANSFER, LEU;

EID: 8844267652     PISSN: 02511649     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. van den Ouweland J.M., Lemkes H.H., Ruitenbeek W., et al. Mutation in mitochondrial tRNA(Leu) (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat. Genet., 1, 368, 1992.
2. Reardon W., Ross R.J., Sweeney M.G., et al. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet, 340, 1376, 1992.
3. Guillausseau P.J., Massin P., Dubois-LaForgue D., et al. Maternally inherited diabetes and deafness: a multicenter study. Ann. Intern. Med, 134, 721, 2001.
4. Suzuki S., Oka Y., Kadowaki T., et al. Clinical features of diabetes mellitus with the mitochondrial DNA 3243 (A-G) mutation in Japanese: Maternal inheritance and mitochondria-related complications. Diabetes Res. Clin. Pract., 59, 207, 2003.
5. Leu(UUR) gene. Jpn. Circ. J., 63, 877, 1999.
6. Momiyama Y., Suzuki Y., Ohsuzu F., Atsumi Y., Matsuoka K., Kimura M. Left ventricular hypertrophy and diastolic dysfunction in mitochondrial diabetes. Diabetes Care, 24, 604, 2001.
7. Aggarwal P, Gill-Randall R., Wheatley T., Buchalter M.B., Metcalfe J., Alcolado J.C. Identification of mtDNA mutation in a pedigree with gestational diabetes, deafness, Wolff-Parkinson-White syndrome and placenta accreta. Hum, Hered., 51, 114, 2001.
8. Majamaa-Voltti K., Peuhkurinen K., Kortelainen M.L., Hassinen I.E., Majamaa K. Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G. BMC. Cardiovasc. Disord., 2, 12, 2002.
9. Romhilt D.W., Estes E.H. A point score system for the ECG diagnosis of left ventricular hypertrophy. Am. Heart. J., 5, 752, 1968.
10. Feigenbaum H. Echocardiographic measurements and normal values. In: Feigenbaum H. (Ed.). "Echocardiography." Lee & Febiger, Philadelphia, 1994, pp. 658-683.
11. Devereux R.B., Reichek N. Echocardiographic determination of left ventricular mass in man: Anatomic validation of the method. Circulation, 55, 613, 1977.
12. Savage D.D., Garrison R.J., Kannel W.B., et al. The spectrum of left ventricular hypertrophy in a general population sample: The Framingham Study. Circulation, 75(Suppl. I), 26, 1987.
13. Ciafaloni E., Ricci E., Shanske S., et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann. Neurol, 31, 391, 1992.
14. Graham B.H., Waymire K.G., Cottrell B., Trounce I.A., MacGregor G.R., Wallace D.C. A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. Nat. Genet., 16, 226, 1997.
15. Pang C.Y., Lee H.C., Wei Y.H. Enhanced oxidative damage in human cells harboring A3243G mutation of mitochondrial DNA: implication of oxidative stress in the pathogenesis of mitochondrial diabetes. Diabetes Res. Clin. Pract., 54(Suppl. 2), 45, 2001.
16. Li Y., Huang T.T., Carlson E.J., et al. Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese Superoxide dismutase. Nat. Genet., 11, 376, 1995.