establishment-rat-model-for-intrauterine-adhesions-via-dual-injury

Establishment of a Rat Model for Intrauterine Adhesions via Dual Injury: Curettage and Infection

Intrauterine adhesions (IUAs), the most common disorders of endometrial injury with incompletely understood etiology, profoundly disrupt female ...

Southern Medical University

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic disorder that results in impaired enzyme activity. The G6PD/6PGD ratio assay was routinely used for G6PD deficiency screening in China, but there is an apparent defect of missed diagnosis in heterozygous females. The study aims to explore the means to improve its accuracy.

Reduction of Missed Diagnosis of G6PD Deficiency in Heterozygous Females by G6PD/6PGD Ratio Assay Combined with Amplification Refractory Mutation System PCR.

Hereditary hearing loss is a highly heterogeneous disorder. This study aimed to identify the genetic cause of a Chinese family with autosomal recessive non-syndromic sensorineural hearing loss (ARNSHL).

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.

In observational studies, polycystic ovary syndrome (PCOS) has been associated with an increased risk of hypertensive disorders of pregnancy (HDPs); however, the causality between these conditions remains to be determined. This study aimed to investigate the causal relationship between PCOS and HDPs.

The genetic association between polycystic ovary syndrome and the risk of hypertensive disorders of pregnancy: A Mendelian randomization study.

Deficiency in the short-chain enoyl-CoA hydratase 1 (ECHS1) gene causes Leigh syndrome (LS), a rare inherited metabolic disorder. Despite LS that arises as a result of inborn errors of energy metabolism, the specific contributions of ECHS1 deficiency to energy metabolism processes, developmental delay, and its mediated signaling mechanism remain unclear. Here, we identify a novel compound heterozygous variant [c.724G > A (p.Glu242Lys) and c.865G > A (Asp289Asn)] in the ECHS1 gene from a family of Han Chinese descent, with the affected individual displaying typical LS symptoms. The ECHS1 variants exhibit reduced 2-enoyl-CoA hydratase activity, resulting in a restricted ATP production rate, but the cellular ATP levels remains unchanged. ECHS1 deficiency also decreases cell viability and proliferation. Mechanistically, ECHS1 interacts with ADRB2, and its variants suppress the ADRB2/protein kinase A (PKA) signaling. Treatment with PKA signaling agonists or overexpression of PKA subunits in ECHS1-deficient cells can rescue the ATP production rate and restore cell viability. Additionally, the mitochondrial E3 ligase MUL1 mediates the ubiquitylation and degradation of ECHS1 protein variants. In conclusion, our study suggests that ECHS1 deficiency impairs mitochondrial respiratory efficiency, thereby lowering the ATP production rate, and reveals a promising therapeutic approach by targeting ADRB2/PKA signaling to combat ECHS1 deficiency-induced LS.

Article	Year
Reduction of Missed Diagnosis of G6PD Deficiency in Heterozygous Females by G6PD/6PGD Ratio Assay Combined with Amplification Refractory Mutation System PCR. Human heredity\| PubMed ID: 36315991	2023
Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss. BMC medical genomics\| PubMed ID: 38167320	2024
The genetic association between polycystic ovary syndrome and the risk of hypertensive disorders of pregnancy: A Mendelian randomization study. European journal of obstetrics, gynecology, and reproductive biology\| PubMed ID: 39742733	2025
Deficiency in the conserved ECHS1 gene causes Leigh syndrome by impairing mitochondrial respiration efficiency and suppressing ADRB2-PKA signaling. Biochimica et biophysica acta. Molecular basis of disease\| PubMed ID: 40446940	2025

Shiguo Chen

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