Diabetology International

, Volume 3, Issue 1, pp 54–60 | Cite as

A case of mitochondrial kidney disease with insulin resistance and hypoadiponectinemia

  • Megu Yamaguchi Baden
  • Yuya Yamada
  • Yasumitsu Takahi
  • Yoshinari Obata
  • Kenji Saisho
  • Sachiko Tamba
  • Koji Yamamoto
  • Jun Muratsu
  • Atsuyuki Morishima
  • Katsuhiko Sakaguchi
  • Yuji Matsuzawa
Case report
First Online:
Received:
Accepted:

Abstract

A 27-year-old woman with severe proteinuria, diabetes mellitus, sensorineural hearing impairment, and slight renal dysfunction was admitted to our hospital. The patient was diagnosed as having mitochondrial kidney disease, a rare disease with mitochondrial 3243 A to G mutation. The patient’s mother and younger sister had the same mitochondrial mutation, with the younger sister also having proteinuria. Differing from general mitochondrial diabetic patients with decreased insulin secretion, this patient showed insulin resistance. The thickening of the carotid intima-media, high brachial ankle pulse wave velocity, and ischemic change in cerebral white matter implied progressive arteriosclerosis. The patient also had hypoadiponectinemia even though she only had a small amount of visceral fat, and this hypoadiponectinemia may be one of the reasons behind the insulin resistance and arteriosclerosis. This case showed that insulin resistance cannot be the sole reason to exclude the possibility of mitochondrial kidney disease, and also showed the potential relationship between mitochondrial mutation and hypoadiponectinemia.

Keywords

Mitochondrial kidney disease Diabetes mellitus 3243 A to G mutation Insulin resistance Adiponectin Oxidative stress 
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Notes

Conflict of interest

The authors declare that they have no conflicts of interest.

References

  1. 1.
    Van den Ouweland JMW, Lemkes HHPJ, Ruitenbeek W, Sandkuijl LA, De Vijlder MF, Struyvenberg PAA, Van de Kamp JJP, Maassen JA. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet. 1992;1:368–71.PubMedCrossRefGoogle Scholar
  2. 2.
    Maechler P, Wollheim CB. Mitochondrial function in normal and diabetic β-cells. Nature. 2001;414:807–12.PubMedCrossRefGoogle Scholar
  3. 3.
    Vionnet N, Passa P, Froguel P. Prevalence of mitochondrial gene mutations in families with diabetes mellitus. Lancet. 1993;342:1429–30.PubMedCrossRefGoogle Scholar
  4. 4.
    Kadowaki T, Kadowaki H, Mori Y, Tobe K, Sakuta R, Suzuki Y, Tanabe Y, Sakura H, Awata T, Goto Y, Hayakawa T, Matsuoka K, Kawamori R, Kamada T, Horai S, Nonaka I, Hagura R, Akanuma Y, Yazaki Y. A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. N Engl J Med. 1994;330:962–8.PubMedCrossRefGoogle Scholar
  5. 5.
    Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol. 1992;31:391–8.PubMedCrossRefGoogle Scholar
  6. 6.
    Jancen JJ, Maassen JA, van der Woude FJ, Lemmink HA, Van den Ouweland JM, t’Hart LM, Smeets HJ, Brujin JA, Lemkes HH. Mutation in mitochondrial tRNA(Leu)(UUR) gene associated with progressive kidney disease. J Am Soc Nephrol. 1997;8:1118–24.Google Scholar
  7. 7.
    Fujii H, Mori Y, Kayamori K, Igari T, Ito E, Akashi T, Noguchi Y, Kitamura K, Okado T, Terada Y, Kanda E, Rai T, Uchida S, Sasaki S. A familial case of mitochondrial disease resembling Alport syndrome. Clin Exp Nephrol. 2008;12:159–63.PubMedCrossRefGoogle Scholar
  8. 8.
    Hotta O, Inoue CN, Miyabayashi S, Furuta T, Takeuchi A, Taguma Y. Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation. Kidney Int. 2001;59:1236–43.PubMedCrossRefGoogle Scholar
  9. 9.
    The Committee of Japan Diabetes Society on the diagnostic criteria of diabetes mellitus. Report of the Committee on the classification and diagnostic criteria of diabetes mellitus. J Japan Diabetes Soc. 2010;53:450–67. (in Japanese).Google Scholar
  10. 10.
    Kumada M, Kihara S, Sumitsuji S, Kawamoto T, Matsumoto S, Ouchi N, Arita Y, Okamoto Y, Shimomura I, Hiraoka H, Nakamura T, Funahashi T, Matsuzawa Y, Osaka CAD Study Group. Association of hypoadiponectinemia with coronary artery disease in men. Arterioscler Thromb Vasc Biol. 2003;23:85–9.PubMedCrossRefGoogle Scholar
  11. 11.
    Nishimura A, Sawai T. Determination of adiponectin in serum using a latex particle-enhanced turbidimetric immunoassay with an automated analyzer. Clin Chim Acta. 2006;371:163–8.PubMedCrossRefGoogle Scholar
  12. 12.
    Nagano M, Ito N, Kato M, Tadokoro K, Egashira T, Goto Y. Invader assay for screening test of mitochondrial disease, detecting common point mutation in mitochondrial DNA. Med Sci Dig. 2008;34:40–3. (in Japanese).Google Scholar
  13. 13.
    Hirano M, Konishi K, Arata N, Iyori M, Sakuta T, Kuramochi S, Akizuki M. Renal complication in a patient with A-to-G mutation of mitochondrial DNA at the 3243 position of leucine tRNA. Intern Med. 2002;41:113–8.PubMedCrossRefGoogle Scholar
  14. 14.
    Flierl A, Reichmamm H, Seibel P. Pathophysiology of the MELAS 3243 transition mutation. J Biol Chem. 1997;272:27189–96.PubMedCrossRefGoogle Scholar
  15. 15.
    Ohkubo K, Yamano A, Nagashima M, Mori Y, Anzai K, Akehi Y, Nomiyama R, Asano T, Urae A, Ono J. Mitochondrial gene mutations in the tRNA (Leu(UUR)) region and diabetes: prevalence and clinical phenotypes in Japan. Clin Chem. 2001;47:1641–8.PubMedGoogle Scholar
  16. 16.
    Baden MY, Obata Y, Hosokawa Y, Saisho K, Tamba S, Yamamoto K, Umeda M, Furubayashi A, Tsukamoto Y, Yamada Y, Katsuragi K, Matsuzawa Y. Effects of alcohol drinking and smoking habit on serum adiponectin level in both diabetic and non-diabetic subjects. J Metab Syndr. 2010;7:8–16. (in Japanese).Google Scholar
  17. 17.
    Kotani K, Tokunaga K, Fujioka S, Kobatake T, Keno Y, Yoshida S, Shimomura I, Tarui S, Matsuzawa Y. Sexual dimorphism of age-related changes in whole body fat distribution in the obese. Int J Obes. 1994;18:207–12.Google Scholar
  18. 18.
    Matsuzawa Y. Pathophysiology and molecular mechanisms of visceral fat syndrome: the Japanese experience. Diabetes/Metab Rev. 1997;13:3–13.Google Scholar
  19. 19.
    Park KS, Song JH, Lee KU, Choi CS, Koh JJ, Shin CS, Lee HK. Peripheral blood mitochondrial DNA content correlates with lipid oxidation rate during euglycemic clamps in healthy young men. Diabetes Res Clin Pract. 1999;46:149–54.PubMedCrossRefGoogle Scholar
  20. 20.
    Furukawa S, Fujita T, Shimabukuro M, Iwaki M, Yamada Y, Nakajima Y, Nakayama O, Makishima M, Matsuda M, Shimomura I. Increased oxidative stress in obesity and its impact on metabolic syndrome. J Clin Invest. 2004;114:1752–61.PubMedGoogle Scholar
  21. 21.
    Ozcan U, Cao Q, Yilmaz E, Lee AH, Iwakoshi NN, Ozdelen E, Tuncman G, Görgün C, Glimcher LH, Hotamisligil GS. Endoplasmic reticulum stress links obesity, insulin action, and type 2 diabetes. Science. 2004;306:457–61.PubMedCrossRefGoogle Scholar
  22. 22.
    Ruige JB, Assendelft WJ, Dekker JM, Kostense PJ, Heine RJ, Bouter LM. Insulin and risk of cardiovascular disease: a meta-analysis. Circulation. 1996;93:1809–17.Google Scholar
  23. 23.
    Hall AM, Unwin RJ, Hanna MG, Duchen MR. Renal function and mitochondrial cytopathy (MC): more questions than answers? Q J Med. 2008;101:755–66.CrossRefGoogle Scholar
  24. 24.
    Armstrong JS. Mitochodria-directed therapeutics. Antioxid redox signal, vol 10. New Rochelle: Mary Ann Liebert, Inc. publishers; 2008. p. 575–8.Google Scholar
  25. 25.
    Chan DC. Mitochondria: dynamic organelles in disease, aging, and development. Cell. 2006;125:1241–52.PubMedCrossRefGoogle Scholar

Copyright information

© The Japan Diabetes Society 2011

Authors and Affiliations

  • Megu Yamaguchi Baden
    • 1
  • Yuya Yamada
    • 1
  • Yasumitsu Takahi
    • 1
  • Yoshinari Obata
    • 1
  • Kenji Saisho
    • 1
  • Sachiko Tamba
    • 1
  • Koji Yamamoto
    • 1
  • Jun Muratsu
    • 2
  • Atsuyuki Morishima
    • 2
  • Katsuhiko Sakaguchi
    • 2
  • Yuji Matsuzawa
    • 1
  1. 1.Department of Endocrinology and MetabolismSumitomo HospitalOsakaJapan
  2. 2.Department of Nephrology and HypertensionSumitomo HospitalOsakaJapan

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