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Topic Review
Factors Debilitating Mitochondrial Function
Alzheimer’s disease (AD) is the most frequent cause of age-related neurodegeneration and cognitive impairment, and there are currently no broadly effective therapies. The underlying pathogenesis is complex, but a growing body of evidence implicates mitochondrial dysfunction as a common pathomechanism involved in many of the hallmark features of the AD brain, such as the formation of amyloid-beta (Aβ) aggregates (amyloid plaques), neurofibrillary tangles, cholinergic system dysfunction, impaired synaptic transmission and plasticity, oxidative stress, and neuroinflammation, that lead to neurodegeneration and cognitive dysfunction. Indeed, mitochondrial dysfunction concomitant with progressive accumulation of mitochondrial Aβ is an early event in AD pathogenesis. Healthy mitochondria are critical for providing sufficient energy to maintain endogenous neuroprotective and reparative mechanisms, while disturbances in mitochondrial function, motility, fission, and fusion lead to neuronal malfunction and degeneration associated with excess free radical production and reduced intracellular calcium buffering. In addition, mitochondrial dysfunction can contribute to amyloid-β precursor protein (APP) expression and misprocessing to produce pathogenic fragments (e.g., Aβ1-40).
  • 785
  • 15 Jun 2021
Topic Review
Diseases Associated with the Mother’s Curse
The mitochondrion was characterized for years as the energy factory of the cell, but now its role in many more cellular processes is recognized. The mitochondrion and mitochondrial DNA (mtDNA) also possess a set of distinct properties, including maternal inheritance, that creates the Mother’s Curse phenomenon. As mtDNA is inherited from females to all offspring, mutations that are harmful to males tend to accumulate more easily. The Mother’s Curse is associated with various diseases, and has a significant effect on males, in many cases even affecting their reproductive ability. Sometimes, it even leads to reproductive isolation, as in crosses between different populations, the mitochondrial genome cannot cooperate effectively with the nuclear one resulting in a mito-nuclear incompatibility and reduce the fitness of the hybrids. This phenomenon is observed both in the laboratory and in natural populations, and have the potential to influence their evolution and speciation. Therefore, it turns out that the study of mitochondria is an exciting field that finds many applications, including pest control, and it can shed light on the molecular mechanism of several diseases, improving successful diagnosis and therapeutics. Finally, mito-nuclear co-adaptation, paternal leakage, and kin selection are some mechanisms that can mitigate the impact of the Mother’s Curse. Since mitochondria play an important role in many pathways and cellular processes, they are involved in the pathogenesis of many diseases, and thus, the accumulation of mutations in mtDNA can have a serious impact on health and fitness, especially for males, due to its maternal inheritance. 
  • 785
  • 11 Mar 2024
Topic Review
SUMF1 Gene
Sulfatase modifying factor 1: The SUMF1 gene provides instructions for making an enzyme called formylglycine-generating enzyme (FGE). 
  • 784
  • 24 Dec 2020
Topic Review
ATL1 Gene
atlastin GTPase 1. The ATL1 gene provides instructions for producing a protein called atlastin-1. 
  • 784
  • 24 Dec 2020
Topic Review
SIX1 Gene
SIX homeobox 1
  • 784
  • 24 Dec 2020
Topic Review
Reproductive Journey in Genomic Era
The aim of this entry is to assess the new horizon opened by technologies such as next-generation sequencing (NGS), in new strategies, as a genomic precision diagnostic tool to understand the mechanisms underlying genetic conditions during the “reproductive journey”.
  • 784
  • 29 Dec 2020
Topic Review
MYOC Gene
myocilin
  • 784
  • 23 Dec 2020
Topic Review
Sjögren-Larsson Syndrome
Sjögren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems.
  • 784
  • 25 Dec 2020
Topic Review
Hailey-Hailey Disease
Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. These inflamed areas can become crusty or scaly and may itch and burn. The skin problems tend to worsen with exposure to moisture (such as sweat), friction, and hot weather.
  • 783
  • 23 Dec 2020
Topic Review
Unverricht-Lundborg Disease
Unverricht-Lundborg disease is a rare inherited form of epilepsy.
  • 783
  • 23 Dec 2020
Topic Review
WNT4 Gene
Wnt family member 4: The WNT4 gene belongs to a family of WNT genes that play critical roles in development before birth. WNT genes provide instructions for making proteins that participate in chemical signaling pathways in the body. These pathways control the activity of certain genes and regulate the interactions between cells during embryonic development.
  • 783
  • 24 Dec 2020
Topic Review
Rett Syndrome
Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome.
  • 783
  • 24 Dec 2020
Topic Review
Caffey Disease
Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Excessive new bone formation (hyperostosis) is characteristic of Caffey disease. The bone abnormalities mainly affect the jawbone, shoulder blades (scapulae), collarbones (clavicles), and the shafts (diaphyses) of long bones in the arms and legs. Affected bones may double or triple in width, which can be seen by x-ray imaging. In some cases two bones that are next to each other, such as two ribs or the pairs of long bones in the forearms (radius and ulna) or lower legs (tibia and fibula) become fused together. Babies with Caffey disease also have swelling of joints and of soft tissues such as muscles, with pain and redness in the affected areas. Affected infants can also be feverish and irritable.
  • 783
  • 24 Dec 2020
Topic Review
EGLN1 Gene
Egl-9 family hypoxia inducible factor 1
  • 783
  • 24 Dec 2020
Topic Review
ADAMTSL4 Gene
ADAMTS like 4
  • 783
  • 05 Apr 2021
Topic Review
Epidermolysis Bullosa Simplex
Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) occur in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. Blistering primarily affects the hands and feet in mild cases, and the blisters usually heal without leaving scars. Severe cases of this condition involve widespread blistering that can lead to infections, dehydration, and other medical problems. Severe cases may be life-threatening in infancy.
  • 783
  • 25 Dec 2020
Topic Review
MT-TK Gene
mitochondrially encoded tRNA lysine
  • 782
  • 23 Dec 2020
Topic Review
Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of the bones (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue.
  • 782
  • 23 Dec 2020
Topic Review
IL23R Gene
Interleukin 23 receptor
  • 782
  • 23 Dec 2020
Topic Review
Renal Coloboma Syndrome
Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development.
  • 782
  • 24 Dec 2020
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