Evidence map›Paper›PMID 42098781›Full record

ArticleReproductive biology and endocrinology : RB&E2026

SPATA22 heterozygous variants drive premature ovarian insufficiency: mechanism of granulosa cells dysfunction and therapeutic potential of N-acetylcysteine (NAC) treatment.

Lingjin Xia, Wenjing Zhang, Miao Liu, Yupei Shen, Jian Zhang, Difei Wang, Fei Wang, Zhaofeng Zhang, Yushun Zhong, Ya Huang and 5 more

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In one paragraph

Article in Reproductive biology and endocrinology : RB&E, 2026. 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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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

15 authors.

Lingjin Xia *Shanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Pharmacy School, Fudan University, Shanghai, PR China. 837791112@qq.com.ORCID http://orcid.org/0000-0001-9685-477X
Wenjing Zhang *Shanghai Towako Hospital, Shanghai, PR China.
Miao LiuReproductive Medicine Center, Zhongshan Hospital, Fudan University, Shanghai, PR China.
Yupei ShenShanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Pharmacy School, Fudan University, Shanghai, PR China.
Jian ZhangShanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Pharmacy School, Fudan University, Shanghai, PR China.
Difei WangShanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Pharmacy School, Fudan University, Shanghai, PR China.
Fei WangFrontier Research Center, School of Medicine, Anhui University of Science and Technology, Huainan, Anhui, China.
Zhaofeng ZhangShanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Pharmacy School, Fudan University, Shanghai, PR China.
Yushun ZhongShanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Pharmacy School, Fudan University, Shanghai, PR China.
Ya HuangShanghai Towako Hospital, Shanghai, PR China.
Guihua LiShanghai Jishengsuo Hospital, Shanghai, PR China.
Xin WangShanghai Jishengsuo Hospital, Shanghai, PR China.
Zhikai WangShanghai Jishengsuo Hospital, Shanghai, PR China.
Suying LiuReproductive Medicine Center, Zhongshan Hospital, Fudan University, Shanghai, PR China. lsy6592@163.com.ORCID http://orcid.org/0000-0002-3148-2247
Jing DuShanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Pharmacy School, Fudan University, Shanghai, PR China. dujing42@126.com.ORCID http://orcid.org/0000-0002-6767-2763

Funding

Natural Science Foundation of Shanghai 22ZR1456200
6 · The paper itself

Abstract

backgroundPremature ovarian insufficiency (POI) is a prevalent reproductive endocrine disorder, with genetic pathogenesis remaining largely elusive. SPATA22 is a known meiotic regulator in germ cells, while its function in ovarian somatic granulosa cells (GCs) and causal link to POI remain entirely uncharacterized.

methodsWhole-exome sequencing (WES) was performed in 608 idiopathic POI patients, with Sanger sequencing validating the identified SPATA22 variants in the affected pedigree. Pathogenicity and therapeutic potential were verified via in vivo phenotypic analysis of Spata22

resultsTwo heterozygous pathogenic SPATA22 variants were identified in a POI pedigree with four affected infertile individuals. SPATA22 defects caused GCs dysfunction, accumulated DNA damage, oxidative stress, ovarian insufficiency, impaired fertility in mice. The antioxidant NAC effectively rescued GCs defects, and partially restored Spata22

conclusionsThe present study identifies SPATA22 as a causative gene for human POI, provides the first definitive demonstration of a non-canonical somatic function of SPATA22 in GCs, and offers a promising therapeutic strategy for SPATA22-related POI.

Indexed as

AcetylcysteineGranulosa CellsPrimary Ovarian InsufficiencyAdultAnimalsCoculture TechniquesExome SequencingFemaleHeterozygoteHumansMiceOxidative StressPedigreeAcetylcysteineDNA damageFemale infertilityOxidative stressPremature ovarian insufficiencySPATA22Variants

Identifiers

PMID42098781
PMCPMC13321471

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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.