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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

Lookup NU author(s): Professor Robert Taylor



Introduction: 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. Case presentation. 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. Conclusion. 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 MELAS, but without an obvious genetic cause. © 2009 Abu-Amero et al; licensee BioMed Central Ltd.

Publication metadata

Author(s): Abu-Amero K, Al-Dhalaan H, Bohlega S, Hellani A, Taylor R

Publication type: Article

Publication status: Published

Journal: Journal of Medical Case Reports

Year: 2009

Volume: 3

Issue: 1

Pages: 77

Print publication date: 01/01/2009

Date deposited: 15/11/2011

ISSN (electronic): 1752-1947

Publisher: BioMed Central Ltd.


DOI: 10.1186/1752-1947-3-77


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