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Instability of Human Mitochondrial DNA, Nuclear Genes and Diseases
Published in Shamim I. Ahmad, Handbook of Mitochondrial Dysfunction, 2019
The last subgroup of mitochondrial diseases with nucleotide pool perturbations is the one resulting from defective transport between mitochondria and the cytosol. Here two main defects can be described – mutations in SLC25A4 (formerly called ANT1) and MPV 17. SLC25A4 (4q35.1) encoding adenosine nucleotides translocator, an inner mitochondrial membrane protein responsible for the transport of ATP, produced in the process of oxidative respiration, from mitochondrial matrix to intermembrane space and ADP, necessary as a substrate for ATP production, from intermembrane space to mitochondrial matrix. Mutations in SLC25A4 were in fact the first described defect of mtDNA maintenance presenting as autosomal dominant PEO43. The dominance of SLC25A4 mutations can be easily explained by the structure of the adenine nucleotide translocator. The protein forms a homodimer. When proteins produced from one of the alleles are defective it can be predicted that up to 3/4 of translocators can have improper structure and function. Recently the third player in this group has appeared: AGK (7q34) gene encoding acylglicerol synthase. It is necessary for membrane lipids synthesis and therefore influences mitochondrial membrane composition. It seems that mutations in AGK lead to improper ANT1 assembly, as the nucleotide translocator is bound to the inner membrane phosphatidic acid and cardiolipin44.
Brain Gene Expression Profiling of Individuals With Dual Diagnosis Who Died by Suicide
Published in Journal of Dual Diagnosis, 2020
Brenda Cabrera-Mendoza, Cristóbal Fresno, Nancy Monroy-Jaramillo, Gabriel Rodrigo Fries, Consuelo Walss-Bass, David C. Glahn, Patricia Ostrosky-Wegman, Alma Delia Genis-Mendoza, José Jaime Martínez-Magaña, Ana Luisa Romero-Pimentel, Carlos Enrique Díaz-Otañez, Fernando García-Dolores, Eli Elier González-Sáenz, Roberto Cuauhtemoc Mendoza-Morales, Gonzalo Flores, Rubén Vázquez-Roque, Humberto Nicolini
The interaction term (substance use disorder x MD) indicated that the expression of 133 genes was influenced by the interaction between substance use disorder and MD. Functional analysis of these genes showed enrichment in vesicle (GO:0031982, 58 genes), synapse (GO:0045202, 31 genes), neurogenesis (GO:0022008, 26 genes), cell junction (GO:0030054, 21 genes), and myelin sheath (GO:0043209, 13 genes). The pathway analysis indicated association to synaptic vesicle cycle (hsa04721, 6 genes: ATP6V1A, ATP6V1G2, SNAP25, STX1A, VAMP2, SYT1) and calcium signaling pathway (hsa04020, 7 genes: ADCY1, SLC25A4, ITPKB, PPP3CB, PRKCB, VDAC3, CAMK2B). The lists of DEG identified in each comparison as well as genes influenced by the interaction between substance use disorder and MD are available in the Supplementary Material.
Ophthalmological Manifestations of Hereditary Myopathies
Published in Journal of Binocular Vision and Ocular Motility, 2022
Marta Saint-Gerons, Miguel Angel Rubio, Gemma Aznar, Ana Matheu
Progressive external ophthalmoplegia (PEO) when it occurs in isolation, it is often referred to as chronic progressive external ophthalmoplegia (CPEO).26 All modes of inheritance are reported. When the nuclear DNA is affected (e.g., related defects of mtDNA maintenance and transcription (POLG1, ANT, TWNK, POLG2, RRM2B, or SLC25A4)), progressive external ophthalmoplegia is usually inherited in an autosomal dominant or autosomal recessive pattern. When MT-TL1 gene and other mitochondrial transfer RNA genes are involved, it is inherited in a mitochondrial pattern. CPEO occurs sporadically in approximately 50% of cases as a result of large deletions of mtDNA.27,28
Site-specific protein biomarkers in gastric cancer: a comprehensive review of novel biomarkers and clinical applications
Published in Expert Review of Molecular Diagnostics, 2023
Takahiro Shinozuka, Mitsuro Kanda, Yasuhiro Kodera
Urine is obtained more easily, in large amounts, and in a noninvasive manner compared with blood. Several microRNAs (miRNAs) and DNA have been reported as urinary biomarkers [81], Here we describe urine protein biomarkers for GC [67]. Fan et al. examined urine proteomic signatures and identified protein biomarkers that predict the risk of GC [74]. A total of 255 participants were enrolled in the study, comprising 123 individuals in the discovery phase and 132 in the validation phase. A prospective investigation was conducted on a subset of 60 subjects presenting gastric lesions, who were monitored for a duration ranging from 297 to 857 days. The authors demonstrated that baseline urinary levels of annexin A11 (ANXA11), cell division control protein 42 (CDC42), N-ethylmaleimide-sensitive factor attachment protein alpha (NAPA), and solute carrier family 25 member 4 (SLC25A4) were positively correlated with an increased risk of gastric lesion progression. The combination of the four proteins exhibited exceptional performance in predicting the risk of GC (AUC 0.81, 95% CI: 0.73–0.89 and AUC 0.84, 95% CI: 0.77–0.92 for GC vs. mild or advanced gastric lesions, respectively). Shimura et al. also conducted urine proteomics analysis and identified two distinct panels on the basis of sex in a study population consisting of 138 healthy individuals and 144 GC patients [75]. In male patients, the combination of urinary TFF1, urinary disintegrin and metalloproteinase domain-containing protein 12 (ADAM12), and H. pylori status effectively discriminated between GC and healthy subjects, achieving an AUC of 0.858. In female patients, urinary TFF1, urinary BRCA1-associated RING domain 1 (BARD1), and H. pylori status resulted in an AUC of 0.893. This panel also facilitated the identification of early-stage GC, yielding an AUC of approximately 0.850 for both genders.