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Topic Review
PHF21A Gene
PHD finger protein 21A
  • 835
  • 25 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.
  • 835
  • 31 May 2021
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.
  • 834
  • 23 Dec 2020
Topic Review
VPS13B Gene
Vacuolar protein sorting 13 homolog B.
  • 834
  • 24 Dec 2020
Topic Review
TBXT Gene
T-box transcription factor T: The TBXT gene provides instructions for making a protein called brachyury. 
  • 834
  • 24 Dec 2020
Topic Review
CLN4 Disease
CLN4 disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of CLN4 disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood.
  • 834
  • 24 Dec 2020
Topic Review
PNKP Gene
polynucleotide kinase 3'-phosphatase
  • 834
  • 25 Dec 2020
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.
  • 833
  • 26 Oct 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.  
  • 833
  • 23 Dec 2020
Topic Review
Moyamoya Disease
Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them.
  • 833
  • 23 Dec 2020
Topic Review
Christianson Syndrome
Christianson syndrome is a disorder that primarily affects the nervous system.
  • 833
  • 24 Dec 2020
Topic Review
Familial Glucocorticoid Deficiency
Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in maintaining normal blood sugar levels, help trigger nerve cell signaling in the brain, and serve many other purposes in the body.
  • 833
  • 25 Dec 2020
Topic Review
Isolated Pierre Robin Sequence
Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and blockage (obstruction) of the airways.
  • 832
  • 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.
  • 832
  • 23 Dec 2020
Topic Review
TECPR2 Gene
Tectonin beta-propeller repeat containing 2: The TECPR2 gene provides instructions for making a protein that is involved in a cellular process called autophagy. 
  • 832
  • 24 Dec 2020
Topic Review
TERT Gene
Telomerase reverse transcriptase: The TERT gene provides instructions for making one component of an enzyme called telomerase.
  • 832
  • 24 Dec 2020
Topic Review
Factor XIII Deficiency
Factor XIII deficiency is a rare bleeding disorder. Researchers have identified an inherited form and a less severe form that is acquired during a person's lifetime.
  • 832
  • 25 Dec 2020
Topic Review
Granulomatosis with Polyangiitis
Granulomatosis with polyangiitis (GPA) is a condition that causes inflammation that primarily affects the respiratory tract (including the lungs and airways) and the kidneys. This disorder is formerly known as Wegener granulomatosis.
  • 831
  • 23 Dec 2020
Topic Review
SF3B4 Gene
splicing factor 3b subunit 4
  • 831
  • 24 Dec 2020
Topic Review
Protein C Deficiency
Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe.
  • 831
  • 24 Dec 2020
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