Dysphagia, malnutrition and gastrointestinal problems in patients with mitochondrial disease caused by the m3243a>g mutation

Netherlands Journal of Medicine

Volumn 73, Issue 1, 2015, Pages 30-36

  de Laat, P ^a   Zweers, H E E ^b   Knuijt, S ^c   Smeitink, J A M ^a   Wanten, G J A ^b   Janssen, M C H ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Departments of Gastroenterology and Hepatology   (Netherlands)

^c Departments of Rehabilitation Departments of Speech Pathology   (Netherlands)

Author keywords

Dysphagia; Gastrointestinal problems; M.3243A>G mutation; Malnutrition; Maternally inherited diabetes and deafness (MIDD); MELAS; Mitochondrial medicine

Indexed keywords

ADULT; ANTHROPOMETRY; ARTICLE; ASSESSMENT OF HUMANS; BODY MASS; CLINICAL ASSESSMENT; CONSTIPATION; CONTROLLED STUDY; DISEASE SEVERITY; DYSPHAGIA; FEMALE; FLATULENCE; FOLLOW UP; GASTROINTESTINAL SYMPTOM; GASTROINTESTINAL SYMPTOMS QUESTIONNAIRE; GENE MUTATION; HETEROPLASMY; HUMAN; LIKERT SCALE; LIMIT OF DETECTION; MAJOR CLINICAL STUDY; MALE; MALNUTRITION; MALNUTRITION UNIVERSAL SCREENING TOOL; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL GENE; NEWCASTLE MITOCHONDRIAL DISEASE ADULT SCALE; QUALITY OF LIFE; COMPLICATION; DEGLUTITION DISORDERS; DNA MUTATIONAL ANALYSIS; GENETICS; HETEROZYGOTE; MELAS SYNDROME; MIDDLE AGED; MUTATION; QUESTIONNAIRE; RETROSPECTIVE STUDY;

MITOCHONDRIAL DNA;

ADULT; CONSTIPATION; DEGLUTITION DISORDERS; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; FOLLOW-UP STUDIES; HETEROZYGOTE; HUMANS; MALE; MALNUTRITION; MELAS SYNDROME; MIDDLE AGED; MUTATION; RETROSPECTIVE STUDIES; SURVEYS AND QUESTIONNAIRES;

EID: 84923011804     PISSN: 03002977     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (38)

1. Schaefer AM, McFarland R, Blakely EL, et al. Prevalence of mitochondrial DNA disease in adults. Ann Neurol. 2008;63:35-9.
2. Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol. 1984;16:481-8.
3. Goto Y, Nonaka I, Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomy opathies. Nature. 1990;348:651-3.
4. Kobayashi Y, Momoi MY, Tominaga K, et al. A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy,encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun. 1990;173:816-22.
5. Chinnery PF, Johnson MA, Wardell TM, et al. The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol. 2000;48:188-93.
6. Majamaa K, Moilanen JS, Uimonen S, et al. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am J Hum Genet. 1998;63:447-54.
7. Manwaring N, Jones MM, Wang JJ, et al. Population prevalence of the MELAS A3243G mutation. Mitochondrion. 2007;7:230-3.
8. Van den Ouweland JM, Lemkes HH, Ruitenbeek W, Sandkuijl LA, de Vijlder MF, Struyvenberg PA, et al. 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.
9. Lev D, Nissenkorn A, Leshinsky-Silver E, et al. Clinical presentations of mitochondrial cardiomyopathies. Pediatr Cardiol. 2004;25:443-50.
10. De Laat P, Smeitink JA, Janssen MC, Keunen JE, Boon CJ. Mitochondrial retinal dystrophy associated with the m.3243A>G mutation. Ophthalmology. 2013;120:2684-96.
11. Lowik MM, Hol FA, Steenbergen EJ, Wetzels JF, van den Heuvel LP. Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis. Nephrol Dial Transplant. 2005;20:336-41.
12. Durand-Dubief F, Ryvlin P, Mauguiere F. [Polymorphism of epilepsy associated with the A3243G mutation of mitochondrial DNA (MELAS):reasons for delayed diagnosis]. Rev Neurol. 2004;160:824-9.
13. Ma Y, Fang F, Cao Y, et al. Clinical features of mitochondrial DNA m.3243A>G mutation in 47 Chinese families. J Neurol Sci. 2010;291:17-21.
14. Nesbitt V, Pitceathly RD, Turnbull DM, et al. The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management. J Neurol Neurosurg Psychiatry. 2013;84:936-8.
15. Whittaker RG, Blackwood JK, Alston CL, et al. Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation. Neurology. 2009;72:568-9.
16. De Laat P, Koene S, van de Heuvel LPWJ, Rodenburg RJT, Janssen MCH, Smeitink JAM. Inheritance of the m.3243A>G mutation. JIMD Reports. 2013;8:47-50.
17. Rahman S. Gastrointestinal and hepatic manifestations of mitochondrial disorders. J Inherit Metab Dis. 2013;36:659-73.
18. Finsterer J. Overview on visceral manifestations of mitochondrial disorders. Neth J Med. 2006;64:61-71.
19. Knuijt S, Kalf JG, de Swart BJ, et al. Dysarthria and dysphagia are highly prevalent among various types of neuromuscular diseases. Disabil Rehabil. 2014;36:1285-9.
20. Phoenix C, Schaefer AM, Elson JL, et al. A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscul Disord. 2006;16:814-20.
21. Narbonne H, Paquis-Fluckinger V, Valero R, Heyries L, Pellissier JF, Vialettes B. Gastrointestinal tract symptoms in Maternally Inherited Diabetes and Deafness (MIDD). Diabetes Metab. 2004;30:61-6.
22. Van Kerkhoven LaS, Eikendal T, Laheij RJF, van Oijen MGH, Jansen JBMJ. Gastrointestinal symptoms are still common in a general Western population. Neth J Med. 2008;66:18-22.
23. Read JL, Whittaker RG, Miller N, et al. Prevalence and severity of voice and swallowing difficulties in mitochondrial disease. Lang Commun Disord.2012;47:106-11.
24. de Laat P, Koene S, van de Heuvel LPWJ, Rodenburg RJT, Janssen MCH, Smeitink JAM. Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation. J Inherit Metab Dis. 2012;35:1059-69.
25. Meas T, Laloi-Michelin M, Virally M, Ambonville C, Kevorkian J-P, Guillausseau P-J. [Mitochondrial diabetes: clinical features, diagnosis and management]. Rev Méd Interne. 2010;31:216-21.
26. Murphy R, Turnbull DM, Walker M, Hattersley AT. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. Diabet Med. 2008;25:383-99.
27. Li HZ, Li RY, Li M. A review of maternally inherited diabetes and deafness. Front Biosci. 2014;19:777-82.
28. Schaefer AM, Phoenix C, Elson JL, McFarland R, Chinnery PF, Turnbull DM. Mitochondrial disease in adults: a scale to monitor progression and treatment. Neurology. 2006;66:1932-4.
29. Bovenschen HJ, Janssen MJR, van Oijen MGH, Laheij RJF, van Rossum LGM, Jansen JBMJ. Evaluation of a gastrointestinal symptoms questionnaire. Dig Dis Sci. 2006;51:1509-15.
30. van Marrewijk CJ, Mujakovic S, Fransen GA, et al. Effect and cost-effectiveness of step-up versus step-down treatment with antacids, H2-receptor antagonists, and proton pump inhibitors in patients with new onset dyspepsia (DIAMOND study): a primary-care-based randomised controlled trial. Lancet. 2009;373:215-25.
31. Stratton RJ, King CL, Stroud Ma, Jackson AA, Elia M. ‘Malnutrition Universal Screening Tool’ predicts mortality and length of hospital stay in acutely ill elderly. Br J Nutr. 2007;95:325.
32. Koene S, Smeitink J. Mitochondrial medicine: entering the era of treatment. J Inter Med. 2009;265:193-209.
33. Morava E, Rodenburg R, Zweers H, De Vries M, Smeitink J. Dietary intervention and oxidative phosphorylation capacity. J Inherit Metab Dis. 2006;29:589.
34. Wortmann SB, van Essen HZ, Rodenburg RJT, et al. Mitochondrial energy production correlates with the age-related BMI. Pediatr Res. 2009;65:103-8.
35. Ushmorov A, Hack V, Droge W. Differential reconstitution of mitochondrial respiratory chain activity and plasma redox state by cysteine and ornithine in a model of cancer cachexia. Cancer Res.1999;59:3527-34.
36. Lis CG, Gupta D, Lammersfeld CA, Markman M, Vashi PG. Role of nutritional status in predicting quality of life outcomes in cancer-asystematic review of the epidemiological literature. Nutr J. 2012;11:27.
37. Marin B, Desport JC, Kajeu P, et al. Alteration of nutritional status at diagnosis is a prognostic factor for survival of amyotrophic lateral sclerosis patients. J Neurol Neurosurg Psychiatry. 2011;82:628-34.
38. Van den Engel-Hoek L, Erasmus CE, Hendriks JC, et al. Oral muscles are progressively affected in Duchenne muscular dystrophy: implications for dysphagia treatment. J Neurol. 2013;260:1295-303.