Evidence map›Paper›PMID 40181460›Full record

ArticleOrphanet journal of rare diseases2025

Growth differentiation factor 15: a valuable biomarker for the diagnosis and prognosis of late-onset form of multiple Acyl-CoA dehydrogenation deficiency.

Sun Yuan, Tang Shuyao, Lyu Jingwei, Wen Bing, Xu Jingwen, Li Busu, Zhao Bing, Ji Kunqian, Yan Chuanzhu

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Article 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. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Sun YuanNeurology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, Qingdao, 266035, China.
Tang ShuyaoDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Cheeloo College of Medicine, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China.
Lyu JingweiDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Cheeloo College of Medicine, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China.
Wen BingDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Cheeloo College of Medicine, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China.
Xu JingwenDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Cheeloo College of Medicine, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China.
Li BusuDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Cheeloo College of Medicine, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China.
Zhao BingNeurology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, Qingdao, 266035, China.
Ji KunqianDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Cheeloo College of Medicine, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China. jikunqian@email.sdu.edu.cn.
Yan ChuanzhuNeurology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, Qingdao, 266035, China. czyan@sdu.edu.cn.ORCID 0000-0002-2191-5184

Funding

Key R&D Program of Shandong Province 2022ZLGX03National Natural Science Foundation of China No.82171394Qingdao Clinical Research Center for Rare Diseases of the Nervous System 22-3-7-lczx-3-nshTaishan Scholar Special Foundation of Shandong Province No.tsqn202408341
6 · The paper itself

Abstract

backgroundMultiple acyl-CoA Dehydrogenation Deficiency (MADD) is a hereditary metabolic disorder affecting the metabolism of fatty acids, amino acids, and choline, typically presenting with fat accumulation and mitochondrial abnormalities in muscle pathology. Growth differentiation factor 15 (GDF15) is a stress-responsive cytokine implicated in energy metabolism. Therefore, this study aimed to assess the level of GDF15 in patients with late-onset MADD and to evaluate its potential as a reliable biomarker for diagnosing symptoms and determining the severity of late-onset MADD.

methodsIn this study, consecutive patients with MADD mitochondrial diseases were recruited from the Neuromuscular Center of Qilu Hospital, Shandong University, between April 2015 and October 2021. We measured serum GDF15 levels in patients with late-onset MADD and healthy controls. Additionally, we analyzed the messenger RNA(mRNA) expression of GDF15 and integrated stress response (ISR)-related factors, including CHOP, ATF5, and TRIB3, in the muscles.

resultsSerum GDF15 levels in patients with late-onset MADD were 18.8 times higher than those in healthy controls. GDF15 levels decreased as the disease progressed, and its elecated levels correlated with anorexia symptoms. The mRNA expression of GDF15 and ISR-related factors in the muscles was higher in patients with late-onset MADD than in controls.

conclusionGDF15 levels were significantly elevated in symptomatic patients with late-onset MADD, likely due to mitochondrial dysfunction activating the ISR pathway. These findings suggest that GDF15 is a valuable biomarker for monitoring disease severity and symptomatology in patients with late-onset MADD.

Indexed as

Growth Differentiation Factor 15Multiple Acyl Coenzyme A Dehydrogenase DeficiencyAdultBiomarkersFemaleHumansMaleMiddle AgedPrognosisBiomarkersGDF15 protein, humanGrowth Differentiation Factor 15BiomarkerGrowth differentiation factor 15Integrated stress responseMitochondrial dysfunctionMultiple Acyl-CoA dehydrogenation deficiency

Identifiers

PMID40181460
PMCPMC11969926

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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.