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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
CDH1 Gene
cadherin 1
  • 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
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.
  • 843
  • 25 Dec 2020
Topic Review
PHF21A Gene
PHD finger protein 21A
  • 843
  • 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.
  • 843
  • 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.
  • 843
  • 16 Nov 2022
Topic Review
GNPTAB Gene
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
  • 842
  • 22 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.
  • 842
  • 23 Dec 2020
Topic Review
TBXT Gene
T-box transcription factor T: The TBXT gene provides instructions for making a protein called brachyury. 
  • 842
  • 24 Dec 2020
Topic Review
Christianson Syndrome
Christianson syndrome is a disorder that primarily affects the nervous system.
  • 842
  • 24 Dec 2020
Topic Review
Opioid Addiction
Opioid addiction is a long-lasting (chronic) disease that can cause major health, social, and economic problems. Opioids are a class of drugs that act in the nervous system to produce feelings of pleasure and pain relief. Some opioids are legally prescribed by healthcare providers to manage severe and chronic pain. Commonly prescribed opioids include oxycodone, fentanyl, buprenorphine, methadone, oxymorphone, hydrocodone, codeine, and morphine. Some other opioids, such as heroin, are illegal drugs of abuse.
  • 842
  • 24 Dec 2020
Topic Review
CDKN1B Gene
cyclin dependent kinase inhibitor 1B
  • 842
  • 24 Dec 2020
Topic Review
X-linked Dilated Cardiomyopathy
X-linked dilated cardiomyopathy is a form of heart disease.
  • 842
  • 24 Dec 2020
Topic Review
PANK2 Gene
pantothenate kinase 2
  • 842
  • 25 Dec 2020
Topic Review
Primary Spontaneous Pneumothorax
Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. Spontaneous means the pneumothorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely due to the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. Air in the pleural space creates pressure on the lung and can lead to its collapse. A person with this condition may feel chest pain on the side of the collapsed lung and shortness of breath.
  • 842
  • 04 Jan 2021
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.
  • 841
  • 26 Oct 2020
Topic Review
Giant Axonal Neuropathy
Giant axonal neuropathy is an inherited condition characterized by abnormally large and dysfunctional axons called giant axons.
  • 841
  • 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.  
  • 841
  • 23 Dec 2020
Topic Review
Birt-Hogg-Dubé Syndrome
Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals.
  • 841
  • 24 Dec 2020
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