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Related Concept Videos

Lethal Alleles02:41

Lethal Alleles

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Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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ATP Synthase: Structure01:18

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ATP synthase or ATPase is among the most conserved proteins found in bacteria, mammals, and plants. This enzyme can catalyze a forward reaction in response to the electrochemical gradient, producing ATP from ADP and inorganic phosphate. ATP synthase can also work in a reverse direction by hydrolyzing ATP and generating an electrochemical gradient. Different forms of ATP synthases have evolved special features to meet the specific demands of the cell. Based on their specific feature, ATP...
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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Kleine-Levin Syndrome.

Olufunke Afolabi-Brown1, Thornton B A Mason1

  • 1Sleep Center, The Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA 19104.

Paediatric Respiratory Reviews
|February 21, 2017
PubMed
Summary
This summary is machine-generated.

Kleine-Levin syndrome (KLS) is a rare sleep disorder with episodes of excessive sleepiness and behavioral changes. Diagnosis is challenging due to lack of biomarkers, but prognosis is generally favorable with symptom resolution.

Keywords:
HyperphagiaHypersexualityHypersomniaKleine-Levin Syndrome

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Area of Science:

  • Neurology
  • Sleep Medicine
  • Rare Diseases

Background:

  • Kleine-Levin syndrome (KLS) is a rare neurological disorder characterized by recurrent episodes of hypersomnia.
  • Episodes are accompanied by cognitive deficits, behavioral changes, and a return to normal functioning between episodes.
  • KLS is often misdiagnosed, leading to underestimation of its prevalence.

Purpose of the Study:

  • To provide a comprehensive overview of Kleine-Levin syndrome.
  • To highlight diagnostic challenges and current therapeutic limitations.
  • To discuss the generally favorable prognosis of KLS.

Main Methods:

  • Literature review of existing studies on Kleine-Levin syndrome.
  • Analysis of clinical characteristics, diagnostic criteria, and epidemiological data.
  • Synthesis of information on management strategies and patient outcomes.

Main Results:

  • KLS predominantly affects adolescents, with a higher incidence in males.
  • Lack of specific biomarkers or imaging findings complicates diagnosis.
  • No consistently effective therapies are currently available for KLS.

Conclusions:

  • KLS diagnosis remains challenging due to non-specific symptoms and overlap with other conditions.
  • Despite treatment difficulties, KLS episodes typically decrease in severity and frequency over time.
  • Most patients experience complete resolution of symptoms, indicating a favorable long-term prognosis.