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Topic Review
PNKP Gene
polynucleotide kinase 3'-phosphatase
  • 846
  • 25 Dec 2020
Topic Review
CDH1 Gene
cadherin 1
  • 846
  • 24 Dec 2020
Topic Review
Stevens-Johnson Syndrome/toxic Epidermal Necrolysis
Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they are now considered part of a continuum. Stevens-Johnson syndrome represents the less severe end of the disease spectrum, and toxic epidermal necrolysis represents the more severe end.  
  • 845
  • 23 Dec 2020
Topic Review
Triosephosphate Isomerase Deficiency
Triosephosphate isomerase deficiency is a disorder characterized by a shortage of red blood cells (anemia), movement problems, increased susceptibility to infection, and muscle weakness that can affect breathing and heart function.  
  • 845
  • 23 Dec 2020
Topic Review
Mucopolysaccharidosis Type I
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types.
  • 845
  • 23 Dec 2020
Topic Review
Myotonic Dystrophy
Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood.
  • 845
  • 23 Dec 2020
Topic Review
Dark Genome in AD Aetiology
Sporadic Alzheimer’s disease (AD) is a complex genetic disease, and the leading cause of dementia worldwide. While great strides have been made in understanding the genetic aetiology of disease there remains a large proportion of the genome unexplored for complex disease.
  • 845
  • 31 May 2021
Topic Review
OGT (Gene)
UDP-N-acetylglucosamine—peptide N-acetylglucosaminyltransferase (EC 2.4.1.255), also known as O-linked β-N-acetylglucosamine transferase and O-GlcNAc transferase, OGT is an enzyme that in humans is encoded by the OGT gene.
  • 845
  • 16 Nov 2022
Topic Review
Genome-Protecting Compounds
Throughout life, organisms are exposed to various exogenous and endogenous factors that cause DNA damages and somatic mutations provoking genomic instability. At a young age, compensatory mechanisms of genome protection are activated to prevent phenotypic and functional changes. However, the increasing stress and age-related deterioration in the functioning of these mechanisms result in damage accumulation, overcoming the functional threshold. In the tissues of aging animals and humans, the frequency of DNA damage and somatic mutations increases, the genome instability appears, which is manifested in a surge of point mutations, breaks and cross-linking of DNA strands, transpositions and translocations, aneuploidies. This leads to aging and the development of age-related diseases. There are several ways to counteract these changes: (1) prevention of DNA damage through stimulation of antioxidant and detoxification systems, as well as transition metal chelation; (2) regulation of DNA methylation, chromatin structure, non-coding RNA activity and prevention of nuclear architecture alterations; (3) improving DNA damage response and repair; (4) selective removal of damaged non-functional and senescent cells. Fortunately, there are a number of trace elements, vitamins, polyphenols, terpenes, polyamines, and other phytochemicals, as well as a number of synthetic pharmacological substances, that have genome-protective and geroprotective effects. Some of them are cofactors of antioxidant enzymes, DNA repair, or epigenetic regulation enzymes (in particular, Zn, Cu, Mg, NAD+, vitamin C, vitamin A, butyrate, glutathione). Others have free radical and advanced glycation endproduct scavenging, anti-inflammatory, heavy metal chelator effects preventing oxidative DNA damages, DNA adduct formation, as well as reducing DNA breaks and cross-linking. More promising compounds targeted on epigenetic mechanisms or stimulate pathways of DNA damage response and repair. Currently, the clinical effectiveness of their application for geroprotection and possible side effects are not clear enough and require future investigation. Unfortunately, most substances have a non-selective effect and are often conditioned by hormesis, a non-selective stress response. Furthermore, they require adjuvant therapy. Additionally, senolytics and senomorphics may be useful to eliminate or prevent the accumulation of harmful cells in an organism. However, they also need additional conditions, in particular, sufficient regenerative potential to be replaced by functional cells. Their effect is more selective but is associated with a number of side effects. For example, they can induce apoptosis of normal cells or promote the proliferation of tumor cells, increase their survival during therapy, or promote metastasis. Consequently, the development of selective drugs or complex therapy targeted on maintaining the genome integrity and its coordinated functioning could become an advanced direction of gerontology and pharmacology.
  • 844
  • 26 Oct 2020
Topic Review
TBXT Gene
T-box transcription factor T: The TBXT gene provides instructions for making a protein called brachyury. 
  • 844
  • 24 Dec 2020
Topic Review
Fish-eye Disease
Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy.
  • 844
  • 25 Dec 2020
Topic Review
PHF21A Gene
PHD finger protein 21A
  • 844
  • 25 Dec 2020
Topic Review
PRPS1 Gene
phosphoribosyl pyrophosphate synthetase 1
  • 843
  • 22 Dec 2020
Topic Review
Autoimmune Lymphoproliferative Syndrome
Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation). Accumulation of excess lymphocytes results in enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly).
  • 843
  • 24 Dec 2020
Topic Review
DUOX2 Gene
Dual Oxidase 2: The DUOX2 gene provides instructions for making an enzyme called dual oxidase 2. 
  • 843
  • 24 Dec 2020
Topic Review
CDKN1B Gene
cyclin dependent kinase inhibitor 1B
  • 843
  • 24 Dec 2020
Topic Review
X-linked Dilated Cardiomyopathy
X-linked dilated cardiomyopathy is a form of heart disease.
  • 843
  • 24 Dec 2020
Topic Review
ALAS2 Gene
5'-aminolevulinate synthase 2
  • 843
  • 24 Dec 2020
Topic Review
FAH Gene
Fumarylacetoacetate hydrolase: The FAH gene provides instructions for making an enzyme called fumarylacetoacetate hydrolase. 
  • 843
  • 25 Dec 2020
Topic Review
GNPTAB Gene
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
  • 842
  • 22 Dec 2020
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