Ask about this productRelated genes to: PDHA2 Blocking Peptide
- Gene:
- PDHA2 NIH gene
- Name:
- pyruvate dehydrogenase E1 alpha 2 subunit
- Previous symbol:
- PDHAL
- Synonyms:
- -
- Chromosome:
- 4q22.3
- Locus Type:
- gene with protein product
- Date approved:
- 1990-07-11
- Date modifiied:
- 2017-08-08
Related products to: PDHA2 Blocking Peptide
Related articles to: PDHA2 Blocking Peptide
- Non-obstructive azoospermia (NOA) is the severest form of male infertility. This study aimed to identify core genes associated with mitochondrial dysfunction and regulatory networks in NOA, providing potential diagnostic biomarkers and therapeutic targets for NOA. We identified mitochondrial dysfunction-related hub genes by analyzing three testis transcriptome datasets, and further confirmed their diagnostic value, differential expression in clinical specimens, and immune infiltration associations. For GSE108886 and GSE145467, 35 mitochondrial dysfunction-related differentially expressed genes (MD-DEGs, 10 upregulated and 25 downregulated) were obtained. And 6 common hub genes (COX7A1, COX7A2, COX7B2, MRPS15, AURKAIP1, and PDHA2) were identified. hsa-miR-12,116, hsa-miR-296-5p, and transcription factors (FOXA1, FOXC1, GATA2, SRF) simultaneously targeted two hub MD-DEGs. Diagnostic model incorporating COX7A1, COX7A2, AURKAIP1 and MRPS15 presented preliminary diagnostic efficacy with AUC value of 0.930 (95% CI [0.835-1.000]). Subsequently, RT-qPCR confirmed upregulation of COX7A1 (P < 0.05) and downregulation of COX7A2, COX7B2, MRPS15, AURKAIP1 and PDHA2 (P < 0.05 for all) in NOA patients. In addition, T cells CD8 and Mast cells resting were enriched in NOA patients. MD-DEGs including COX7A1, COX7A2, MRPS15 and AURKAIP1 may play pivotal roles in NOA pathogenesis, and could serve as a pre-biopsy screening tool to stratify patients and monitor therapeutic responses for NOA. - Source: PubMed
Publication date: 2026/02/04
Liu QianWu HailangYou JiaWang JingchunPeng XiangchiYe ZhenWu Menghua - This study investigated the metabolomic profiles and molecular basis of hybrid male sterility (HMS) in dzo (the male F1 hybrid offspring of taurine cattle (, ♂) × domestic yak (, ♀)). In total, 147 co-different metabolites were identified between liver and testis tissues. Metabolomics analysis linked testis-specific abnormal citrate cycle and phenylalanine metabolism to dzo male infertility. Specifically, α-ketoglutaric acid, L-malic acid, and succinic acid were specific elevated in dzo testes, but not significantly different in liver. The testis-specific metabolite phenyllactate was reduced in dzo. Moreover, genes encoding α-ketoglutarate-dependent oxygenases were dysregulated only in dzo testes, including histone demethylations and RNA mA modifications. Reactive oxygen species and mA content were significantly decreased in dzo testes. Multiomics data showed that testis-specific metabolic abnormalities in dzo were linked to upregulated and , and downregulated testis-specific and . MiRNA-15b targeting to was downregulated in dzo testes. The promoter of was hypermethylated and showed lower chromatin accessibility in dzo testes. Notably, testis-specific downregulation was also associated with lower phenyllactate in dzo testes, which could be an outcome of male infertility. Overall, this study provides comprehensive insights into the citrate cycle as a key pathway associated with dzo sterility, shedding light on the potential mitochondrial-nuclear incompatibility pertinent to addressing this HMS challenge. - Source: PubMed
Publication date: 2025/10/17
Ding JiaojiaoDao YanLiang LingqianHong RuiChen HuiyouYan YiWang LingZuo FuyuanZhang Gongwei - Microsurgical testicular sperm extraction (microTESE) with intracytoplasmic sperm injection (ICSI) represents the current standard treatment for nonobstructive azoospermia (NOA). However, cures remain unavailable for NOA patients lacking retrievable haploid cells. mRNA supplementation could be a potential treatment for genetic defects leading to impaired spermatogenesis. Lipid nanoparticles (LNPs) have emerged as mRNA delivery vehicles with minimal risk of genome integration; however, their ability to selectively deliver mRNA to specific cell types remains limited. To overcome this, microRNA (miRNA) target sequences were incorporated into mRNA constructs to restrict expression specifically to germ cells. Using pyruvate dehydrogenase E1 subunit alpha 2 (PDHA2) knockout mice as an NOA model with meiotic arrest, we demonstrate that LNP-mediated delivery of mRNA enables the resumption and completion of meiosis, restores sperm production, and facilitates the generation of healthy fertile offspring via ICSI. Whole-genome sequencing of the offspring confirmed the absence of large-scale genomic abnormalities. Our results provide proof of concept for a safe and effective chemically synthesized LNP-based mRNA therapy with miRNA-regulated germ cell specificity, offering a promising therapeutic approach to treating male infertility caused by spermatogenesis arrest. - Source: PubMed
Publication date: 2025/10/13
Mashiko DaisukeEmori ChihiroHatanaka YukiMotooka DaisukePan ChenKaneda YukiMatzuk Martin MIkawa Masahito - Pyruvate dehydrogenase E1 subunit alpha 2 (PDHA2) is a testis-specific mitochondrial protein involved in energy metabolism and spermatogenesis. In their study, Keisuke Shimada and colleagues show that PDHA2 is crucial for normal spermatogenesis and it likely compensates for Pdha1, which is normally silenced during meiosis, in male germ cells. To find out more about their work, we spoke to the first author, Chen Pan, and the corresponding author, Keisuke Shimada, Associate Professor at the Laboratory of Disease Models, School of Veterinary Medicine, Rakuno Gakuen University, Japan. - Source: PubMed
Publication date: 2025/08/07
- It is known that various testis-specific mitochondrial proteins are associated with energy metabolism and male meiosis. PDHA2 is a testis-specific mitochondrial protein, and its encoding gene is speculated to be an autosomal retrogene of the progenitor X-linked Pdha1. Here, we show that Pdha2 knockout (KO) mice exhibit azoospermia due to failure at the late pachytene-diplotene transition. We found that PDHA2 interacts with PDHB and PDHA1. PDHA2 absence leads to decreased PDHB amounts and ATP levels in male germ cells. ATP reduction impairs the function of the ATPase recombination proteins RAD51 and DMC1, causing crossover formation deficiency, further resulting in double-strand break repair failure at the pachytene stage. Pdha1 expression by transgenes in Pdha2 KO germ cells rescues fertility and PDHB expression in Pdha2 KO males, confirming the functional equivalence of PDHA1 and PDHA2. Because X-linked Pdha1 expression is silenced during meiotic sex chromosome inactivation, our findings also support the hypothesis that Pdha2 was transposed from Pdha1. In summary, PDHA2 compensates for silenced PDHA1 in male germ cells, and plays a crucial role in maintaining efficient double-strand break repair for proper meiotic progression. - Source: PubMed
Publication date: 2025/08/07
Pan ChenShimada KeisukeChang Hsin-YiWang HaotingIkawa Masahito