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ND2 mutation with minimal coenzyme-Q responsive manifestations
J. Finsterer, S. Zarrouk-Mahjoub
To cite this version:
J. Finsterer, S. Zarrouk-Mahjoub. ND2 mutation with minimal coenzyme-Q responsive manifestations. Molecular Genetics and Metabolism Reports, Elsevier, 2017, 10, pp.83.
�10.1016/j.ymgmr.2017.01.007�. �hal-01565815�
Correspondence
ND2 mutation with minimal coenzyme-Q responsive manifestations
Keywords:
Mitochondrial mtDNA MTFMT Leigh syndrome MIMODS
Letter to the Editor,
With interest we read the article by Zanolini et al. about a 21 yo male with exercise-intolerance since age 7 y, recurrent vomiting since age 17 y, muscle wasting, decreased tendon reflexes, high-arched palate and mal-occlusion detected at age 20 y, exercise-induced supraventric- ular tachycardia, and lactic acidosis due to a ND2 mutation[1]. The pa- tient profited from coenzyme-Q[1]. We have the following comments and concerns.
We do not regard retinitis pigmentosa, polyneuropathy and hypoacusis as central nervous system features, as mentioned in the in- troduction. Additionally, there was not only muscle but also gastro-in- testinal and cardiac involvement.
Mitochondrial vomiting is a frequent phenotypic feature of MELAS [2]and cyclic vomiting syndrome[3]. However, vomiting has been also reported in patients carrying SUCLA2, POLG1, TWINKLE, ETFDH, or tRNA(Trp) mutations, and in patients with combined complex- I,III,IV deficiency, MNGIE, KSS, Leigh-syndrome, Leigh-like syndrome, MERRF/MELAS overlap syndrome, depletion syndrome, pyruvate-dehy- drogenase deficiency, Pearson syndrome, or non-specific syndromic mi- tochondrial disorder. Was vomiting in the presented patient associated with headache or migraine-like attacks? Which were the results of gas- troscopy? Did vomiting respond to coenzyme-Q? Which other therapy was applied?
The patient is reported to have cardiac involvement[1]. Did he also undergo cardiac MRI with contrast medium to look for noncompaction and late gadolinium enhancement? Did supraventricular tachycardia respond to low-dose coenzyme-Q? Did he require antiarrhythmic treatment?
A number of patients with a MID may profit from adherence to a ke- togenic diet[4]. Was the patient recommended to take a low-glycemic diet?[5]
The ND2 mutation obviously occurred spontaneously[1]. Which was the cause? Was the mutation load below the detection limit in the other family members of the maternal lineage? Was there no bio- logical relationship between the proband and other family members?
Overall, this interesting case evokes questions, which should be ad- dressed to further strengthen the report and to learn more about the phenotypic and genotypic peculiarities of MIDs.
References
[1] A. Zanolini, A. Potic, F. Carrara, E. Lamantea, D. Diodato, F. Blasevich, S. Marchet, M.
Mora, F. Pallotti, L. Morandi, M. Zeviani, C. Lamperti, Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene, Mol. Genet. Metab.
Rep. 10 (2016) 24–27.
[2] S. DiMauro, M. Hirano, L.J.H. Bean, T.D. Bird, C.T. Fong, H.C. Mefford, R.J.H. Smith, K.
Stephens, MELAS. 2001 Feb 27 [updated 2013 Nov 21], in: R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya (Eds.), GeneReviews® [Internet], University of Washington, Seattle, Seattle (WA), 1993-2016 (Available from)http://www.ncbi.
nlm.nih.gov/books/NBK1233/.
[3] C.D. Salpietro, S. Briuglia, M.V. Merlino, C. Di Bella, L. Rigoli, A mitochondrial DNA mu- tation (A3243G mtDNA) in a family with cyclic vomiting, Eur. J. Pediatr. 162 (2003) 727–728.
[4] C. Steriade, D.M. Andrade, H. Faghfoury, M.A. Tarnopolsky, P. Tai, Mitochondrial en- cephalopathy with lactic acidosis and stroke-like episodes (MELAS) may respond to adjunctive ketogenic diet, Pediatr. Neurol. 50 (2014) 498–502.
[5] M.H. Martikainen, M. Päivärinta, S. Jääskeläinen, K. Majamaa, Successful treatment of POLG-related mitochondrial epilepsy with antiepileptic drugs and low glycaemic index diet, Epileptic Disord. 14 (2012) 438–441.
Josef Finsterer Krankenanstalt Rudolfstiftung, Vienna, Austria Corresponding author at: Postfach 20, 1180 Vienna, Austria.
E-mail address:fifigs1@yahoo.de.
Sinda Zarrouk-Mahjoub University of Tunis El Manar, Genomics Platform, Pasteur Institute of Tunis, Tunisia 12 January 2017 Molecular Genetics and Metabolism Reports 10 (2017) 83
http://dx.doi.org/10.1016/j.ymgmr.2017.01.007
2214-4269/© 2017 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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