by Sana Parveen  , Suroor Fatima Rizvi  , Adria Hasan  , Uzma Afaq  and Snober S. Mir

Received: 28 June 2022;  Published: 08 November 2022;  doi: 10.21926/obm.genet.2204170

The autophagy mechanism recycles the damaged and long-standing macromolecular substrates and thus maintains cellular homeostatic and proteostatic conditions. Autophagy can be an unavoidable target in cancer therapy because its deregulation leads to cancer formation and progression. Cancer can be controlled by regulating autophagy at different genetic, epigenetic, and post-translational levels. Epigenetics refers to the heritable phenotypic changes that affect gene activity without changing the sequence. Modern biol [...]

by Elizaveta Baranova  , Vladimir Druzhinin  , Ludmila Matskova  , Pavel Demenkov  , Valentin Volobaev  and Alexey Larionov

Received: 01 August 2022;  Published: 07 November 2022;  doi: 10.21926/obm.genet.2204169

Recent findings indicate that the microbiota is involved in the development of lung cancer by inducing inflammatory responses and generating genome damage. This study aimed to compare sputum microbiomes from the mouth and oropharynx in non-small cell lung carcinoma (NSCLC) patients. A second goal was to search for bacterial taxonomic units that behave differently in the microbiome of NSCLC patients and healthy subjects. In the study, the taxonomic composition of the sputum and oropharyngeal microbiomes of 23 male p [...]

by Jaclyn B. Murry  and Ying S. Zou

Received: 30 June 2022;  Published: 07 November 2022;  doi: 10.21926/obm.genet.2204168

Double aneuploidy is the co-occurrence of aneuploidy of two different chromosomes within the same individual. Genomic imbalance associated with two aneuploidies in humans is associated with early lethality, and observation in live-born humans is rare. In isolation, trisomy of chromosomes 13, 18, 21, X, and Y may be better tolerated, whereas monosomy of X is the only such type of aberration that may be compatible with life. It is hypothesized that two successive malsegregation events must occur in early development [...]

by Nora B. Henrikson  , Paula R. Blasi  , Marlaine Figueroa Gray  , Lorella Palazzo  , Aaron Scrol  and Stephanie M. Fullerton

Received: 09 August 2022;  Published: 31 October 2022;  doi: 10.21926/obm.genet.2204167

People choose how and if to generate and disclose not just personal genomic data, but also multiple other types of personal health and non-health related data. To contextualize choices about genetic testing and genetic data disclosure, we explored perspectives of genomic data privacy and disclosure compared to other types of data. We conducted a qualitative focus group study with adult members of an integrated U.S. health system, using administrative data to stratify our sample by age and by race/ethnicity. Discuss [...]

by Rico Miyagasako  , Jin Hansol  , Satoshi Watanabe  , Kazuchika Miyoshi  , Emi Inada  and Masahiro Sato

Received: 07 July 2022;  Published: 29 September 2022;  doi: 10.21926/obm.genet.2203166

The efficient production of transgenic (Tg) piglets has remained a challenge in the field of domestic animal studies. Unlike mice, the pronuclei of pig zygotes cannot be easily studied because of the abundance of lipid droplets. Therefore, the zygotes must be briefly centrifuged before pronuclear injection (PNI) to move the lipid droplets to the periphery of the zygote for PNI-mediated production of Tg piglets. However, this procedure is temporal because lipid droplets return to the original space during PNI, hampe [...]

by Emory Ryan  , Tiffany Jong  and Ellen Sidransky

Received: 20 July 2022;  Published: 26 September 2022;  doi: 10.21926/obm.genet.2203165

Gaucher disease (GD) is one of the most common lysosomal storage disorders resulting from biallelic mutations in the GBA1 gene, causing a dysfunction of the lysosomal hydrolase, glucocerebrosidase (acid-β-glucosidase; E.C 3.2.1.45). Clinical manifestations are heterogenous and can include splenomegaly, anemia, and neurological impairments in the case of neuronopathic Gaucher disease types 2 and 3. Newborn screening, arguably the most important public health initiative to date, has been regularly conducted on newbor [...]

by Anna A. Pendina  , Mikhail I. Krapivin  , Irina D. Mekina  , Irina V. Aleksandrova  , Yanina M. Sagurova  , Evgeniia M. Komarova  , Mariia A. Ishchuk  , Andrei V. Tikhonov  , Olesya N. Bespalova  , Alexander M. Gzgzyan  , Igor Yu. Kogan  and Olga A. Efimova

Received: 13 May 2022;  Published: 23 September 2022;  doi: 10.21926/obm.genet.2203164

This paper suggests an approach for the use of a single paucicellular histological sample to investigate two characteristics indicative of the cell’s functional potential: 1) the content of telomerase reverse transcriptase (TERT) and 2) the telomere length. An algorithm has been suggested for the successive detection of the catalytic telomerase subunit with immunohistochemical staining and assessment of telomere length with Q-FISH on the same set of cells. The described approach uses three incontestable advantages [...]

by Eduardo Garrido  , Javier Botella de Maglia  , Oriol Sibila  and Gustavo Zubieta-Calleja

Received: 18 July 2022;  Published: 09 September 2022;  doi: 10.21926/obm.genet.2203163

High-altitude pulmonary edema (HAPE) and COVID-19 pneumonia are different diseases, but HAPE-susceptible individuals (whose susceptibility often has a genetic basis) can also suffer from severe COVID-19. We hypothesized that certain pathogenic mechanisms might overlap if such a coincidence occurs, since these patients could react to alveolar hypoxia with a more intense and heterogeneously distributed pulmonary vasoconstriction than non-HAPE-susceptible patients. It is also not known how future altitude acclimatizat [...]

by Natalia V. Kovaleva  and Philip D. Cotter

Received: 02 May 2022;  Published: 05 September 2022;  doi: 10.21926/obm.genet.2203162

Mosaicism for trisomy of chromosome 14 (T14) is a very rare chromosomal disease in liveborn patients. Since the 1970s, when the first patients with mosaicism for T14 were reported, a number of studies on the clinical manifestations of this abnormality have been published. No information on epidemiological parameters was known except for the rarity of the disease and its predominance among female carriers. This was the first systematic review of published cases of mosaic T14 that addressed some epidemiological aspec [...]

by Xinying Hong  and Miao He

Received: 04 May 2022;  Published: 02 August 2022;  doi: 10.21926/obm.genet.2203161

Galactosemia is a group of hereditary disorders of galactose metabolism. Newborn screening for galactosemia type I is mandatory in all states in the US since timely intervention can prevent life-threatening sequela. The biochemical basis, clinical presentation, and potential treatment options for different types of galactosemia are described. This review has a focus on the screening methodologies, including the principle of the assay, the transition from the initial bacteria inhibition test to the modern fluorometr [...]