MRPS22 variants alter mitochondrial ribosome assembly in patients with leukodystrophy, movement disorder and intellectual impairment.
Mitochondrial diseases are clinically and genetically heterogeneous, often complicating diagnosis. Here, we describe four unrelated individuals with suspected mitochondrial disease who shared similar neuroimaging features, including bilateral symmetrical supra- and infratentorial white-matter abnorm…
Mitochondrial donation and human reproduction: Clinical, ethical and legal aspects.
Women carriers of a disease caused by changes in mitochondrial DNA (mtDNA) seeking to achieve motherhood, currently have three options: (i) prenatal testing, via CVS or amniocentesis for women aiming to conceive naturally and test the health of the fetus during development; (ii) preimplantation gene…
Deep immune profiling of endometrial and peripheral blood cells in endometriosis.
How is endometrial and systemic immunity modulated throughout the menstrual cycle and are there changes in women with endometriosis? Endometriosis is associated with reduced endometrial early natural killer (NK) cells and increased mucosal-associated invariant T (MAIT)-like CD8+ T cells, with cyclic…
Simultaneous determination of trimethylamine N-oxide (TMAO) and its 15 related metabolites by UPLC-MS/MS in human serum.
Trimethylamine N-oxide (TMAO) is increasingly recognized for its role in the pathogenesis and progression of cardiovascular and metabolic diseases by disturbing fatty acid metabolism. Concurrently, the acylcarnitine profile serves as a critical indicator of associated mitochondrial dysfunction. Howe…
Monoclonal antibodies targeting PCDH7 inhibit tumor growth and enhance immune responses in KRAS-mutant non-small cell lung cancer.
We identified an important oncogenic role for protocadherin 7 (PCDH7), a cell surface protein frequently overexpressed in lung adenocarcinoma and associated with poor clinical outcome. Pcdh7 depletion reduces tumor burden and prolongs survival in KrasLSL-G12D; Tp53fl/fl mice. These findings nominate…
Tetrahedral Framework Nucleic Acids Re-establish Immune Tolerance and Restore Thyroid Function in Hashimoto's Thyroiditis via NOTCH1 Signaling Pathway Inhibition.
Hashimoto's thyroiditis (HT) is a chronic autoimmune disorder in which persistent immune dysregulation gradually impairs thyroid structure and endocrine function. Although levothyroxine replacement can correct hypothyroidism, it has little effect on the underlying autoimmune activity that drives the…
Is an emerging pharmacotherapeutic era for rare mitochondrial diseases here?
After decades without approved pharmacotherapies, mitochondrial disease care is shifting. Two FDA approvals emerged in 1 year, elamipretide (Forzinity) for Barth syndrome and deoxynucleoside therapy (Kygevvi) for TK2 deficiency, with another under review. Zink et al.1 suggest sildenafil (Viagra) cou…
Two Siblings with LRPPRC Mutation: Mitochondrial Complex IV Deficiency: Case Report.
Mitochondrial diseases caused by mutations in the LRPPRC gene are rare and lead to multisystemic dysfunction. We report two siblings from consanguineous Iraqi parents, both harboring a rare homozygous deletion in LRPPRC (c.2726_2728del; p.Lys909del), previously reported in one other patient. These c…