Evidence map›Paper›PMID 25691889›Full record

ReviewFrontiers in genetics2015

Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes.

Ya-Wen Lu, Steven M Claypool

Open access · goldAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Frontiers in genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
86citing papers in PubMed, 1 pooled it
6.3field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

86 citing papers in PubMed, 1 synthesis or guideline pooled it, 133 citations in OpenAlex.

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26 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 2 institutions in 1 country.

Ya-Wen LuDepartment of Physiology, School of Medicine, Johns Hopkins University Baltimore, MD, USA.
Steven M ClaypoolDepartment of Physiology, School of Medicine, Johns Hopkins University Baltimore, MD, USA.
Johns Hopkins Medicine · USJohns Hopkins University · US

Funding

Mitochondrial phosphatidylethanolamine metabolismR01GM111548 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI CLAYPOOL, STEVEN MICHAEL · 2014 to 2021
$2.8M
Characterizing tafazzin and Barth syndrome mutant tafazzinsR00HL089185 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI CLAYPOOL, STEVEN MICHAEL · 2008 to 2010
$740k
NHLBI NIH HHS R00 HL089185NIGMS NIH HHS R01 GM111548
6 · The paper itself

Abstract

The human nuclear and mitochondrial genomes co-exist within each cell. While the mitochondrial genome encodes for a limited number of proteins, transfer RNAs, and ribosomal RNAs, the vast majority of mitochondrial proteins are encoded in the nuclear genome. Of the multitude of mitochondrial disorders known to date, only a fifth are maternally inherited. The recent characterization of the mitochondrial proteome therefore serves as an important step toward delineating the nosology of a large spectrum of phenotypically heterogeneous diseases. Following the identification of the first nuclear gene defect to underlie a mitochondrial disorder, a plenitude of genetic variants that provoke mitochondrial pathophysiology have been molecularly elucidated and classified into six categories that impact: (1) oxidative phosphorylation (subunits and assembly factors); (2) mitochondrial DNA maintenance and expression; (3) mitochondrial protein import and assembly; (4) mitochondrial quality control (chaperones and proteases); (5) iron-sulfur cluster homeostasis; and (6) mitochondrial dynamics (fission and fusion). Here, we propose that an additional class of genetic variant be included in the classification schema to acknowledge the role of genetic defects in phospholipid biosynthesis, remodeling, and metabolism in mitochondrial pathophysiology. This seventh class includes a small but notable group of nuclear-encoded proteins whose dysfunction impacts normal mitochondrial phospholipid metabolism. The resulting human disorders present with a diverse array of pathologic consequences that reflect the variety of functions that phospholipids have in mitochondria and highlight the important role of proper membrane homeostasis in mitochondrial biology.

Indexed as

Barth syndromecardiolipinDCMAhereditary spastic paraplegiaMEGDELmitochondrial diseasephospholipid metabolismSengers syndrome

Identifiers

PMID25691889
PMCPMC4315098
OpenAlexW2083174706

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.