MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.

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Abstrakt

Tytuł:: MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
Autorzy:: Baertling F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Duesseldorf, Moorenstr. 5, 40225, Duesseldorf, Germany.
Haack TB
Rodenburg RJ
Schaper J
Seibt A
Strom TM
Meitinger T
Mayatepek E
Hadzik B
Selcan G
Prokisch H
Distelmaier F
Źródło:: Neurogenetics [Neurogenetics] 2015 Jul; Vol. 16 (3), pp. 237-40. Date of Electronic Publication: 2015 Feb 10.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Publication: <2002->: [New York, N.Y.?] : Springer-Verlag
Original Publication: Oxford, UK : Oxford University Press, c1997-
MeSH Terms:: Acidosis, Lactic/*genetics
Mitochondrial Diseases/*genetics
Mitochondrial Proteins/*genetics
Ribosomal Proteins/*genetics
Acidosis, Lactic/complications ; Brain/pathology ; Fatal Outcome ; Fibroblasts/metabolism ; Frameshift Mutation ; Humans ; Infant, Newborn ; Male ; Mitochondrial Diseases/complications ; Mitochondrial Proteins/metabolism ; Myocardium/pathology ; Ribosomal Proteins/metabolism
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Substance Nomenclature:: 0 (MRPS22 protein, human)
0 (Mitochondrial Proteins)
0 (Ribosomal Proteins)
SCR Disease Name:: Lactic Acidosis, Fatal Infantile
Entry Date(s):: Date Created: 20150210 Date Completed: 20160414 Latest Revision: 20181113
Update Code:: 20240104
DOI:: 10.1007/s10048-015-0440-6
PMID:: 25663021
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The mitochondrial ribosomes are required for the synthesis of mitochondrial DNA-encoded subunits of the oxidative phosphorylation (OXPHOS) system. Here, we present a neonate with fatal lactic acidosis and combined OXPHOS deficiency caused by a homozygous mutation in MRPS22, a gene encoding a mitochondrial ribosomal small subunit protein. Brain imaging revealed several structural abnormalities, including agenesis of the corpus callosum, multiple periventricular cysts, and suspected intracerebral calcifications. Moreover, echocardiography demonstrated atrial and ventricular septal defects as well as a coronary artery fistula. Our report expands the clinical spectrum of this rare mitochondrial disorder and confirms the severe clinical phenotype associated with this defect.

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