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Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.

Abstract：

:Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) is a rare mitochondrial disorder that has previously been associated with mutations in PUS1 and YARS2. In the present report, we describe a 6-year old male with an MLASA plus phenotype. This patient had features of MLASA in the setting of developmental delay, sensorineural hearing loss, epilepsy, agenesis of the corpus callosum, failure to thrive, and stroke-like episodes. Sequencing of the mitochondrial genome identified a novel de novo, heteroplasmic mutation in the mitochondrial DNA (mtDNA) encoded ATP6 gene (m.8969G>A, p.S148N). Whole exome sequencing did not identify mutations or variants in PUS1 or YARS2 or any known nuclear genes that could affect mitochondrial function and explain this phenotype. Studies of fibroblasts derived from the patient revealed a decrease in oligomycin-sensitive respiration, a finding which is consistent with a complex V defect. Thus, this mutation in MT-ATP6 may represent the first mtDNA point mutation associated with the MLASA phenotype.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Burrage LC,Tang S,Wang J,Donti TR,Walkiewicz M,Luchak JM,Chen LC,Schmitt ES,Niu Z,Erana R,Hunter JV,Graham BH,Wong LJ,Scaglia F

doi

10.1016/j.ymgme.2014.06.004

subject

Has Abstract

pub_date

2014-11-01 00:00:00

pages

207-12

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(14)00203-0

journal_volume

113

pub_type

杂志文章

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