Triheptanoin improves brain energy metabolism in patients with Huntington disease

Neurology

Volumn 84, Issue 5, 2015, Pages 490-495

  Adanyeguh, Isaac Mawusi ^a   Rinaldi, Daisy ^a   Henry, Pierre Gilles ^b   Caillet, Samantha ^c   Valabregue, Romain ^a   Durr, Alexandra ^a,c   Mochel, Fanny ^a,c  

^a INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^b UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; CARNITINE; CREATINE PHOSPHATE; PHOSPHATE; PHOSPHORUS 31; TRIHEPTANOIN; TRIACYLGLYCEROL;

ADULT; ARTICLE; BIOENERGY; BRAIN LEVEL; BRAIN METABOLISM; CAG REPEAT; CALORIC INTAKE; CLINICAL ARTICLE; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DIARRHEA; DIET THERAPY; DISEASE SEVERITY; DRUG TOLERANCE; ENERGY METABOLISM; FEMALE; FOLLOW UP; FUNCTIONAL NEUROIMAGING; HUMAN; HUNTINGTON CHOREA; INTERVENTION STUDY; MALE; MIDDLE AGED; MOTOR PERFORMANCE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OBSERVATIONAL STUDY; OPEN STUDY; PRIORITY JOURNAL; TREATMENT DURATION; UNIFIED HUNTINGTON DISEASE RATING SCALE; VISUAL CORTEX; VISUAL STIMULATION; YOUNG ADULT; BRAIN; CLINICAL TRIAL; DRUG EFFECTS; HUNTINGTON DISEASE; METABOLISM; PHYSIOLOGY; PROCEDURES;

ADULT; BRAIN; ENERGY METABOLISM; FEMALE; HUMANS; HUNTINGTON DISEASE; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MIDDLE AGED; TRIGLYCERIDES; YOUNG ADULT;

EID: 84925959180     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001214     Document Type: Article

References (31)

1. Roos RAC. Huntington's disease: A clinical review. Orphanet J Rare Dis 2010;5:40.
2. Grafton ST, Mazziotta JC, Pahl JJ, et al. Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease. Arch Neurol 1991;49: 1161-1167.
3. Kuwert T, Lange HW, Boecker H, et al. Striatal glucose consumption in chorea-free subjects at risk of Huntington's disease. J Neurol 1993;241:31-36.
4. Antonini A, Leenders KL, Spiegel R, et al. Striatal glucose metabolism and dopamine D2 receptor binding in asymptomatic gene carriers and patients with Huntington's disease. Brain 1996;119:2085-2095.
5. Mochel F, Durant B, Meng X, et al. Early alterations of brain cellular energy homeostasis in Huntington disease models. J Biol Chem 2012;287:1361-1370.
6. Mochel F, Charles P, Seguin F, et al. Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression. PLoS One 2007;2:e647.
7. Mochel F, Duteil S, Marelli C, et al. Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease. Eur J Hum Genet 2010;18:1057-1060.
8. Mochel F, N'Guyen TM, Deelchand D, et al. Abnormal response to cortical activation in early stages of Huntington disease. Mov Disord 2012;27:907-910.
9. Tabrizi SJ, Reilman R, Ross RAC, et al. Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: Analysis of 24 month observational data. Lancet Neurol 2012;11:42-53.
10. Scahill RI, Hobbs NZ, Say MJ, et al. Clinical impairment in premanifest and early Huntington's disease is associated with regionally specific atrophy. Hum Brain Mapp 2013; 34:519-529.
11. Wolf RC, Sambatro F, Vasic N, et al. Visual system integrity and cognition in early Huntington's disease. Eur J Neurosci 2014;40:2417-2426.
12. Chance B, Eleff S, Leigh JS, Sokolow D, Sapega A. Mitochondrial regulation of phosphocreatine/inorganic phosphate ratios in exercising human muscle: A gated 31P NMR study. Proc Natl Acad Sci USA 1981;78: 6714-6718.
13. Weiner DH, Fink LI, Maris J, Jones RA, Chance B, Wilson JR. Abnormal skeletal muscle bioenergetics during exercise in patients with heart failure: role of reduced muscle blood flow. Circulation 1986;73:1127-1136.
14. Deelchand DK, Adanyeguh IM, Emir UE, et al. Two-site reproducibility of cerebellar and brainstem neurochemical profiles with short-echo, single-voxel MRS at 3T. Magn Reson Med Epub 2014 Jun 19.
15. Chen W, Zhu XH, Adriany G, Ugurbil K. Increase of creatine kinase activity in the visual cortex of human brain during visual stimulation: A 31P magnetization transfer study. Magn Reson Med 1997;38:551-557.
16. Roe CR, Mochel F. Anaplerotic diet therapy in inherited metabolic disease: Therapeutic potential. J Inherit Metab Dis 2006;29:332-340.
17. Roe CR, Sweetman L, Roe DS, David F, Brunengraber H. Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. J Clin Invest 2002;110:259-269.
18. Roe CR, Yan BZ, Brunengraber H, Roe DS, Wallace M, Garritson BK. Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy. Neurology 2008;71: 260-264.
19. Willis S, Stoll J, Sweetman L, Borges K. Anticonvulsant effects of a triheptanoin diet in two mouse chronic seizure models. Neurobiol Dis 2010;40:565-572.
20. Borges K, Sonnewald U. Triheptanoin-a medium chain triglyceride with odd chain fatty acids: A new anaplerotic anticonvulsant treatment? Epilepsy Res 2012;100:239- 244.
21. Mochel F, DeLonlay P, Touati G, et al. Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy. Mol Genet Metab 2005;84: 305-312.
22. Stanley JC. The glucose-fatty acid-ketone body cycle: role of ketone bodies as respiratory substrates and metabolic signals. Br J Anaesth 1981;53:131-136.
23. Feigin A, Leenders KL, Moeller JR, et al. Metabolic network abnormalities in early Huntington's disease: An [18F]FDG PET study. J Nucl Med 2001;42:1591- 1595.
24. De Vivo DC, Lecki MP, Ferrendelli JS, McDougal DB Jr. Chronic ketosis and cerebral metabolism. Ann Neurol 1978;3:331-337.
25. Bough KJ, Wetherington J, Hassel B, et al. Mitochondrial biogenesis in the anticonvulsant mechanism of the ketogenic diet. Ann Neurol 2006;60:223-235.
26. Behrens PF, Franz P, Woodman B, Lindenberg KS, Landwehrmeyer GB. Impaired glutamate transport and glutamate-glutamine cycling: downstream effects of the Huntington mutation. Brain 2002;125:1908-1922.
27. Owen OE, Kalhan SC, Hanson RW. The key role of anaplerosis and cataplerosis for critic acid cycle function. J Biol Chem 2002;277:30409-30412.
28. Cai K, Haris M, Singh A, et al. Magnetic resonance imaging of glutamate. Nat Med 2012;18:302-306.
29. Tabrizi SJ, Scahill RI, Owen G, et al. Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: Analysis of 36-month observational data. Lancet Neurol 2013;12:637-649.
30. Morey RD. Confidence intervals from normalised data: A correction to Cousineau (2005). Tutor Quant Methods Psychol 2008;4:61-64.
31. Cousineau D. Confidence intervals in within-subject designs: A simpler solution to Loftus and Masson's method. Tutor Quant Methods Psychol 2005;1:42-45.