Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia.

Journal of Human Genetics
Tesseki KinSatoshi Ueno

Abstract

We showed that humanin (HN), an endogenous peptide against Alzheimer disease-related insults, was expressed in muscles of patients with chronic progressive external ophthalmoplegia (CPEO), a major mitochondrial disease. Because HN was recently found to block proapoptotic Bax function and exert its versatile cytoprotective effects in association with an increase in ATP levels, HN expression may thus reflect a physiological response against degenerative changes in the muscles of patients with CPEO. We found HN expression in all four patients examined, each of whom had different mitochondrial DNA mutations including two different single DNA deletions, multiple deletions, and no major mutations detected. We also found that HN expression was not linked to focal cytochrome c deficiency, strongly associated with the subtype of CPEO with single deletions. These results suggest that HN expression is more closely related to degenerative changes in all types of CPEO. Notably, HN was also expressed in non-degenerative muscle fibers of patients with CPEO or Leigh syndrome, who had the 8993T>G mutation in the mitochondrial ATPase 6 gene known to be associated with impaired ATP synthesis. Collectively, our findings suggest that HN may be spec...Continue Reading

References

Jan 1, 1995·Muscle & Nerve. Supplement·Y Goto
Jun 1, 1994·Journal of Bioenergetics and Biomembranes·M D Brown, D C Wallace
Jan 29, 2000·American Heart Journal·D C Wallace
May 24, 2001·Proceedings of the National Academy of Sciences of the United States of America·Y HashimotoI Nishimoto
Aug 10, 2002·Current Neurology and Neuroscience Reports·Andrew G Lee, Paul W Brazis
Sep 17, 2003·Archives of Neurology·Massimiliano FilostoSalvatore DiMauro
Dec 17, 2003·Molecular and Cellular Biochemistry·Shingo KariyaSatoshi Ueno
Mar 11, 2005·Acta Neuropathologica·Shingo KariyaSatoshi Ueno

❮ Previous
Next ❯

Citations

Jan 24, 2017·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Panagiotis NikolakopoulosDimitrios Vavilis
Nov 23, 2017·Frontiers in Endocrinology·Patries M HerstMichael V Berridge
Jan 18, 2018·Biology of Sex Differences·Tania L GonzalezMargareta D Pisarska
May 24, 2020·Scientific Reports·Mariela A Moreno AyalaMarianela Candolfi
Dec 17, 2015·Cardiovascular Therapeutics·Savitree T CharununtakornNipon Chattipakorn
Aug 11, 2020·American Journal of Physiology. Endocrinology and Metabolism·Troy L MerryChanghan Lee
Jun 19, 2018·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Yuhang MaYufan Wang
Sep 1, 2009·Expert Opinion on Medical Diagnostics·Michelangelo MancusoGabriele Siciliano

❮ Previous
Next ❯

Related Concepts

Related Feeds

ATP Synthases

ATP synthases are enzymes located in the inner mitochondrial membrane that catalyze the synthesis of ATP during cellular respiration. Discover the latest research on ATP synthases here.