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Topic Review
FTO Intronic SNP
Browning of white adipose tissue shifts adipocytes from energy storage white to energy expenditure beige types. The balance between the two adipocyte populations in white adipose tissue is highly determined by noncoding variants of the Fat mass and obesity-associated (FTO) locus which has the strongest association with obesity. The rs1421085 FTO risk allele results in a loss of ARID5B repression of IRX3 and IRX5 which promotes excess white adipocyte formation. Recent studies have revealed the presence of brown adipose tissues at several anatomical sites in humans including the deep-neck (DN).  We found that the characteristic gene expression profile and associated pathways of DN brown adipocytes were determined by partially overlapping effects of tissue site specific commitments of the stem cells, PPARγ stimulation and the FTO status of donors. The presence of FTO rs1421085 risk alleles had a strong influence, manifested during differentiation, on browning resulting in compromised expression of metabolic and mitochondrial genes as well as pathways which are decisive in thermogenesis.
  • 1.5K
  • 30 Oct 2020
Topic Review
Galactosemia
Galactosemia is a disorder that affects how the body processes a simple sugar called galactose.
  • 1.5K
  • 23 Dec 2020
Topic Review
Cyclic Vomiting Syndrome
Cyclic vomiting syndrome is a disorder that causes recurrent episodes of nausea, vomiting, and tiredness (lethargy). This condition is diagnosed most often in young children, but it can affect people of any age.
  • 1.5K
  • 24 Dec 2020
Topic Review
DOORS Syndrome
DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). "DOORS" is an abbreviation for the major features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people with DOORS syndrome do not have all of these features.
  • 1.5K
  • 24 Dec 2020
Topic Review
Mitochondrial DNA and DOHaD
Mitochondrial dysfunction is known to contribute to mitochondrial diseases, as well as to a variety of aging-based pathologies. Mitochondria have their own genomes (mitochondrial DNA (mtDNA)) and the abnormalities, such as point mutations, deletions, and copy number variations, are involved in mitochondrial dysfunction. In recent years, several epidemiological studies and animal experiments have supported the Developmental Origin of Health and Disease (DOHaD) theory, which states that the environment during fetal life influences the predisposition to disease and the risk of morbidity in adulthood. Mitochondria play a central role in energy production, as well as in various cellular functions, such as apoptosis, lipid metabolism, and calcium metabolism.
  • 1.5K
  • 19 Jul 2021
Topic Review
Epigenetics and Myotonic Dystrophy Type 1
Among the trinucleotide repeat disorders, myotonic dystrophy type 1 (DM1) is one of the most complex neuromuscular diseases caused by an unstable CTG repeat expansion in the DMPK gene. DM1 patients exhibit high variability in the dynamics of CTG repeat instability and in the manifestations and progression of the disease. The largest expanded alleles are generally associated with the earliest and most severe clinical form. However, CTG repeat length alone is not sufficient to predict disease severity and progression, suggesting the involvement of other factors. Several data support the role of epigenetic alterations in clinical and genetic variability observed in DM1.
  • 1.5K
  • 07 Apr 2022
Topic Review
Relationship of Human Endogenous Retroviruses and Human Cancers
Human endogenous retroviruses (HERVs), once external pathogens, now occupy more than 8% of the human genome and represent the merge of genomic and external factors leading to the development of cancers. Certain HERVs have perfectly assimilated into the cellular environment preventing oncogenesis, while others maintain their pathogenic potential and remain undercover until a time of cellular dysregulation. In particular, HERV genes such as gag, env, pol, np9, and rec have been discovered to carry central roles in immune regulation, checkpoint blockade, cell differentiation, cell fusion, proliferation, metastasis, and cell transformation in tumor environments. In addition, HERV long terminal repeat (LTR) regions have been shown to be involved in transcriptional regulation, creation of fusion proteins, expression of long non-coding RNAs (lncRNAs), and promotion of genome instability through recombination influencing oncogenesis.
  • 1.5K
  • 27 Mar 2023
Topic Review
Elovl4 genes in Sparus aurata
Very long-chain (˃C24) fatty acids (VLC-FA) play critical roles during early development of vertebrates, since these compounds are accumulated in the rapidly forming neural tissues, ensuring their normal function. However, despite their putative importance, the study of VLC-FA in fish is scarce. Biosynthesis of VLC-FA is carried out by the so-called elongation of very long-chain fatty acid 4 (Elovl4) proteins and, consequently, the complement and function of these enzymes determine the capacity that a given species has for satisfying the physiological demands for VLC-FA, especially during its early development. The present study aimed to characterize elovl4 genes from the marine teleosts Sparus aurata and Solea senegalensis, and determine the function of the corresponding encoded proteins. Moreover, the tissue expression pattern of elovl4 genes was determined. The results confirmed that both fish species possess two distinct Elovl4 proteins termed as Elovl4a and Elovl4b based on their homology to the zebrafish orthologs. Functional assays in yeast denoted that both Elovl4a and Elovl4b from both species had the capability to elongate C20-24 fatty acid precursors to VLC-FA products. However, Elovl4b appeared to have a higher activity than Elovl4a elongating all the polyunsaturated fatty acid substrates assayed to longer chain polyunsaturated products, especially on the n-3 series. Gene expression results indicated that, although elovl4 transcripts were detected in most tissues analyzed, elovl4 genes were more strongly expressed in both species neural tissues such as brain and eyes, which showed the highest expression levels of elovl4a and elovl4b, respectively. These results are consistent with the functions of Elovl4 from other vertebrates. Importantly, these findings contribute to a better understanding of the VLC-FA biosynthetic pathway in marine teleosts, highlighting the crucial role that Elovl4 products carry out for the correct development and maintenance of neurophysiologic functions during early stages of the fish development.
  • 1.5K
  • 28 Oct 2020
Topic Review
TP53 Gene
Tumor protein p53: The TP53 gene provides instructions for making a protein called tumor protein p53 (or p53).
  • 1.5K
  • 25 Dec 2020
Topic Review
FENIB
Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy).
  • 1.5K
  • 04 Jan 2021
Topic Review
White-Sutton Syndrome
White-Sutton syndrome is a disorder that causes intellectual disability, specific facial features, and other signs and symptoms affecting various parts of the body. Most affected individuals have features of autism spectrum disorder (ASD), a varied condition characterized by impaired social skills, communication problems, and repetitive behaviors. However, in White-Sutton syndrome these features can occur along with other characteristics that are unusual in people with ASD, such as an overly friendly demeanor.
  • 1.5K
  • 23 Dec 2020
Topic Review
Potocki-Lupski Syndrome
Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication) of a small piece of chromosome 17 in each cell. The duplication occurs on the short (p) arm of the chromosome at a position designated p11.2. This condition is also known as 17p11.2 duplication syndrome.
  • 1.5K
  • 24 Dec 2020
Topic Review
Zona Pellucida
All mammalian oocytes and eggs are surrounded by a relatively thick extracellular matrix (ECM), the zona pellucida (ZP), that plays vital roles during oogenesis, fertilization, and preimplantation development. Unlike ECM surrounding somatic cells, the ZP is composed of only a few glycosylated proteins, ZP1–4, that are unique to oocytes and eggs. ZP1–4 have a large region of polypeptide, the ZP domain (ZPD), consisting of two subdomains, ZP-N and ZP-C, separated by a short linker region, that plays an essential role in polymerization of nascent ZP proteins into crosslinked fibrils. Both subdomains adopt immunoglobulin (Ig)-like folds for their 3-dimensional structure. Mouse and human ZP genes are encoded by single-copy genes located on different chromosomes and are highly expressed in the ovary by growing oocytes during late stages of oogenesis. Genes encoding ZP proteins are conserved among mammals, and their expression is regulated by cis-acting sequences located close to the transcription start-site and by the same/similar trans-acting factors. Nascent ZP proteins are synthesized, packaged into vesicles, secreted into the extracellular space, and assembled into long, crosslinked fibrils that have a structural repeat, a ZP2-ZP3 dimer, and constitute the ZP matrix. Fibrils are oriented differently with respect to the oolemma in the inner and outer layers of the ZP. Sequence elements in the ZPD and the carboxy-terminal propeptide of ZP1–4 regulate secretion and assembly of nascent ZP proteins. The presence of both ZP2 and ZP3 is required to assemble ZP fibrils and ZP1 and ZP4 are used to crosslink the fibrils. Inactivation of mouse ZP genes by gene targeting has a detrimental effect on ZP formation around growing oocytes and female fertility. Gene sequence variations in human ZP genes due to point, missense, or frameshift mutations also have a detrimental effect on ZP formation and female fertility. The latter mutations provide additional support for the role of ZPD subdomains and other regions of ZP polypeptide in polymerization of human ZP proteins into fibrils and matrix. 
  • 1.5K
  • 10 Sep 2021
Topic Review
DNA-Dependent Protein Kinase
The DNA-dependent protein kinase (DNA-PK) is composed of a DNA-dependent protein kinase catalytic subunit (DNA-PKcs) and Ku70/Ku80 heterodimer. DNA-PK is thought to act as the “sensor” for DNA double-stranded breaks (DSB), which are considered the most deleterious type of DNA damage. In particular, DNA-PKcs and Ku are shown to be essential for DSB repair through nonhomologous end joining (NHEJ). The phenotypes of animals and human individuals with defective DNA-PKcs or Ku functions indicate their essential roles in these developments, especially in neuronal and immune systems. DNA-PKcs are structurally related to Ataxia–telangiectasia mutated (ATM), which is also implicated in the cellular responses to DSBs. DNA-PKcs and ATM constitute the phosphatidylinositol 3-kinase-like kinases (PIKKs) family with several other molecules.
  • 1.5K
  • 11 Oct 2021
Topic Review
Genetic Susceptibility to AKI
Acute kidney injury (AKI) is a widely held concern related to a substantial burden of morbidity, mortality and expenditure in the healthcare system. AKI is not a simple illness but a complex conglomeration of syndromes that often occurs as part of other syndromes in its wide clinical spectrum of the disease. Genetic factors have been suggested as potentially responsible for its susceptibility and severity.
  • 1.5K
  • 27 Jul 2021
Topic Review
Satellite DNA of primate genome
Satellite DNA (satDNA) is defined as highly repetitive DNA consisting of short sequences tandemly repeated a large number of times. Collectively known as the "satellitome", this genomic component offers exciting evolutionary insights into aspects of primate genome biology that raise new questions and challenge existing paradigms. 
  • 1.5K
  • 25 Jan 2021
Topic Review
Nuclear Envelope Integrity in Health and Disease
The dynamic nature of the nuclear envelope (NE) is often underestimated. The NE morphology is characterized by a wide range of diversity and abnormality such as invagination and blebbing, and it is a diagnostic factor for pathologies such as cancer.
  • 1.5K
  • 15 Feb 2022
Topic Review
Ras Proteins
Ras proteins are essential mediators of a multitude of cellular processes, and its deregulation is frequently associated with cancer appearance, progression, and metastasis. Ras-driven cancers are usually aggressive and difficult to treat. Although the recent Food and Drug Administration (FDA) approval of the first Ras G12C inhibitor is an important milestone, only a small percentage of patients will benefit from it.
  • 1.5K
  • 10 Sep 2021
Topic Review
CBF-AML
Core binding factor acute myeloid leukemia (CBF-AML) is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection, red blood cells (erythrocytes) that carry oxygen, and platelets (thrombocytes) that are involved in blood clotting. In acute myeloid leukemia, the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets.
  • 1.5K
  • 04 Jan 2021
Topic Review
Iron Assimilation
Iron is a key transition metal required by most microorganisms and is prominently utilised in the transfer of electrons during metabolic reactions. The acquisition of iron is essential and becomes a crucial pathogenic event for opportunistic fungi. Iron is not readily available in the natural environment as it exists in its insoluble ferric form, i.e., in oxides and hydroxides. During infection, the host iron is bound to proteins such as transferrin, ferritin, and haemoglobin. As such, access to iron is one of the major hurdles that fungal pathogens must overcome in an immunocompromised host. Thus, these opportunistic fungi utilise three major iron acquisition systems to overcome this limiting factor for growth and proliferation. (Draft for definition)
  • 1.5K
  • 09 Dec 2020
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