A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report.

Journal of Medical Case Reports
Khaled K Abu-AmeroRobert W Taylor

Abstract

There are currently 23 missense point mutations and one 4 basepair deletion spanning different mitochondrial genes associated with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS). The spectrum of mitochondrial DNA mutations in Arab patients with MELAS is largely unknown. A standard clinical examination was carried out on a 34-year-old Saudi woman showing clinical features of MELAS. Fresh frozen muscle tissue was subjected to enzyme histochemical analysis. DNA was extracted from her leukocytes and muscle tissue, and the full mitochondrial genome was screened for base substitution mutations and deletions. Additionally, we screened the polymerase gamma-1 nuclear gene for mutations. The patient was negative for the most common m.3243 A>G MELAS mutation. Sequencing the full mitochondrial genome did not reveal any known or potentially pathogenic sequence changes. The polymerase gamma-1 gene was also free from mutations. The clinical picture described here typically fits that observed in patients with MELAS or mitochondrial stroke-like events, but mutations in recognized genes (mitochondrial DNA and polymerase gamma-1 gene) were absent. We report the case of a patient with typical clinical features of ME...Continue Reading

References

Jan 1, 1992·Neuromuscular Disorders : NMD·M HiranoL P Rowland
Apr 23, 2002·Nature Reviews. Genetics·Luca CartegniAdrian R Krainer
Mar 9, 2005·Journal of Neuropathology and Experimental Neurology·Gittan KollbergAnders Oldfors
Sep 28, 2006·Investigative Ophthalmology & Visual Science·Khaled K Abu-Amero, Thomas M Bosley
May 16, 2007·Neurology·M DeschauerR W Taylor

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