Evidence map›Paper›PMID 40804397›Full record

ReviewOrphanet journal of rare diseases2025

ECHS1: pathogenic mechanisms, experimental models, and emerging therapeutic strategies.

Qiang Fu, Rui Qiu, Shang Li, Yuxiang Qin, Ziyi Lu, Shanxin Liyao, Zimo Yang, Xiang Cheng, Yuewen Chen, Huan Xu and 1 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
–field-weighted citation impact
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

10 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Polyunsaturated fatty acid metabolism in the retinal pigment epithelium and its association with outer retinal disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026
    Review
  7. Article
  8. Article
  9. Article
  10. Article
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

11 authors.

Qiang FuCenter on Translational Neuroscience, Institute of National Security, Minzu University of China, 27th South Zhongguancun Avenue, Beijing, 100081, China.
Rui QiuCenter on Translational Neuroscience, Institute of National Security, Minzu University of China, 27th South Zhongguancun Avenue, Beijing, 100081, China.
Shang LiCollege of Life and Environmental Sciences, Minzu University of China, Beijing, China.
Yuxiang QinCollege of Life and Environmental Sciences, Minzu University of China, Beijing, China.
Ziyi LuCollege of Life and Environmental Sciences, Minzu University of China, Beijing, China.
Shanxin LiyaoCollege of Life and Environmental Sciences, Minzu University of China, Beijing, China.
Zimo YangCollege of Life and Environmental Sciences, Minzu University of China, Beijing, China.
Xiang ChengCollege of Life and Environmental Sciences, Minzu University of China, Beijing, China.
Yuewen ChenChinese Academy of Sciences Key Laboratory of Brain Connectome and Manipulation, Shenzhen Key Laboratory of Translational Research for Brain Diseases, The Brain Cognition and Brain Disease Institute, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen - Hong Kong Institute of Brain Science - Shenzhen Fundamental Research Institutions, Shenzhen, 518055, Guangdong, China.
Huan XuDepartment of Clinical Laboratory, General Hospital of Xizang Military Command, Lhasa, 850000, China. answerxh@126.com.
Yong ChengCenter on Translational Neuroscience, Institute of National Security, Minzu University of China, 27th South Zhongguancun Avenue, Beijing, 100081, China. yongcheng@muc.edu.cn.ORCID http://orcid.org/0000-0002-7529-4408

Funding

Major Scientific and Technological Task Project of the 2025 Central Government-Guided Local Science and Technology Development Fund of the Tibet Autonomous Region, titled "Key Technologies and Applications for the Treatment of Hereditary Brain Diseases" XZ202501YD0018National Natural Science Foundation of China 82071676
6 · The paper itself

Abstract

The ECHS1 (short-chain enoyl-CoA hydratase 1) gene is critical for mitochondrial fatty acid β-oxidation and branched-chain amino acid metabolism. Mutations in ECHS1 lead to severe mitochondrial dysfunction and are implicated in rare metabolic and neurodegenerative disorders. This review summarizes current understanding of how ECHS1 participates in key molecular processes, including energy metabolism, oxidative stress regulation, and apoptosis, and discusses its influence on mitochondrial function. It also highlights advances in experimental models, including mouse, Drosophila, and induced pluripotent stem cell (iPSC) -based systems, which have illuminated the gene's physiological roles while revealing model-specific limitations. Therapeutic approaches, such as dietary interventions, gene therapy, enzyme replacement therapy, and stem cell therapy, are critically evaluated, emphasizing their potential and current challenges. Despite significant progress, gaps remain in understanding ECHS1's tissue-specific and developmental-stage-specific functions. This review underscores the need for advanced human-relevant models and integrative technologies to address these gaps and foster the development of personalized treatments for ECHS1-related disorders.

Indexed as

Enoyl-CoA HydrataseAnimalsDisease Models, AnimalHumansMitochondriaEnoyl-CoA HydrataseBeta-oxidationECHS1 protein, humanFatty acids, volatileGenetic therapyMitochondrial diseases

Identifiers

PMID40804397
PMCPMC12351961

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.