Evidence map›Paper›PMID 23116158›Full record

ArticleMolecular autism2012

Brain region-specific altered expression and association of mitochondria-related genes in autism.

Ayyappan Anitha, Kazuhiko Nakamura, Ismail Thanseem, Kazuo Yamada, Yoshimi Iwayama, Tomoko Toyota, Hideo Matsuzaki, Taishi Miyachi, Satoru Yamada, Masatsugu Tsujii and 8 more

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

Article in Molecular autism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
79citing papers in PubMed, 6 pooled it
4.9field-weighted citation impact, top 4% 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

79 citing papers in PubMed, 6 syntheses or guidelines pooled it, 147 citations in OpenAlex.

  1. Pooled it
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  4. Hyperbaric oxygen therapy for people with autism spectrum disorder (ASD).The Cochrane database of systematic reviews · 2016
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  6. Meta-Analysis of Gene Expression in Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2015
    Pooled it
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19 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

18 authors at 3 institutions in 1 country.

Ayyappan Anitha *Research Center for Child Mental Development, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431 3192, Japan.
Kazuhiko Nakamura *Department of Psychiatry and Neurology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431 3192, Japan.
Ismail ThanseemDepartment of Psychiatry and Neurology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431 3192, Japan.
Kazuo YamadaLaboratory for Molecular Psychiatry, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako, 351 0198, Japan.
Yoshimi IwayamaLaboratory for Molecular Psychiatry, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako, 351 0198, Japan.
Tomoko ToyotaLaboratory for Molecular Psychiatry, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako, 351 0198, Japan.
Hideo MatsuzakiResearch Center for Child Mental Development, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431 3192, Japan.
Taishi MiyachiResearch Center for Child Mental Development, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431 3192, Japan.
Satoru YamadaTokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu, 183 8561, Japan.
Masatsugu TsujiiResearch Center for Child Mental Development, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431 3192, Japan.
Kenji J TsuchiyaResearch Center for Child Mental Development, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431 3192, Japan.
Kaori MatsumotoResearch Center for Child Mental Development, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431 3192, Japan.
Yasuhide IwataDepartment of Psychiatry and Neurology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431 3192, Japan.
Katsuaki SuzukiResearch Center for Child Mental Development, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431 3192, Japan.
Hironobu IchikawaTokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu, 183 8561, Japan.
Toshiro SugiyamaDepartment of Child and Adolescent Psychiatry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431 3192, Japan.
Takeo YoshikawaLaboratory for Molecular Psychiatry, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako, 351 0198, Japan.
Norio MoriResearch Center for Child Mental Development, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431 3192, Japan.
Hamamatsu University School of Medicine · JPRIKEN Center for Brain Science · JPTokyo Metropolitan Children's Medical Center · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

unlabelled

backgroundMitochondrial dysfunction (MtD) has been observed in approximately five percent of children with autism spectrum disorders (ASD). MtD could impair highly energy-dependent processes such as neurodevelopment, thereby contributing to autism. Most of the previous studies of MtD in autism have been restricted to the biomarkers of energy metabolism, while most of the genetic studies have been based on mutations in the mitochondrial DNA (mtDNA). Despite the mtDNA, most of the proteins essential for mitochondrial replication and function are encoded by the genomic DNA; so far, there have been very few studies of those genes. Therefore, we carried out a detailed study involving gene expression and genetic association studies of genes related to diverse mitochondrial functions.

methodsFor gene expression analysis, postmortem brain tissues (anterior cingulate gyrus (ACG), motor cortex (MC) and thalamus (THL)) from autism patients (n=8) and controls (n=10) were obtained from the Autism Tissue Program (Princeton, NJ, USA). Quantitative real-time PCR arrays were used to quantify the expression of 84 genes related to diverse functions of mitochondria, including biogenesis, transport, translocation and apoptosis. We used the delta delta Ct (∆∆Ct) method for quantification of gene expression. DNA samples from 841 Caucasian and 188 Japanese families were used in the association study of genes selected from the gene expression analysis. FBAT was used to examine genetic association with autism.

resultsSeveral genes showed brain region-specific expression alterations in autism patients compared to controls. Metaxin 2 (MTX2), neurofilament, light polypeptide (NEFL) and solute carrier family 25, member 27 (SLC25A27) showed consistently reduced expression in the ACG, MC and THL of autism patients. NEFL (P = 0.038; Z-score 2.066) and SLC25A27 (P = 0.046; Z-score 1.990) showed genetic association with autism in Caucasian and Japanese samples, respectively. The expression of DNAJC19, DNM1L, LRPPRC, SLC25A12, SLC25A14, SLC25A24 and TOMM20 were reduced in at least two of the brain regions of autism patients.

conclusionsOur study, though preliminary, brings to light some new genes associated with MtD in autism. If MtD is detected in early stages, treatment strategies aimed at reducing its impact may be adopted.

Identifiers

PMID23116158
PMCPMC3528421
OpenAlexW2121398287

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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.