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Lethal Alleles02:41

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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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Incomplete Dominance01:43

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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.

Mitchell G Miglis1, Christian Guilleminault2

  • 1Sleep Medicine, Stanford University, Redwood City, CA, USA. mmiglis@stanford.edu.

Current Neurology and Neuroscience Reports
|May 4, 2016
PubMed
Summary

Kleine-Levin syndrome is a rare neurological disorder causing recurring episodes of excessive sleepiness and cognitive issues. This review covers its symptoms, diagnosis, and treatment, including recent imaging and neuropsychological findings.

Keywords:
AdolescentDerealizationHyperphagiaHypersexualityHypersomniaKleine-Levin syndromeSleep disorder

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Area of Science:

  • Neurology
  • Sleep Medicine

Background:

  • Kleine-Levin syndrome (KLS) is a rare disorder characterized by recurrent hypersomnia.
  • It presents with significant behavioral and cognitive impairments during episodes.

Purpose of the Study:

  • To provide a comprehensive review of Kleine-Levin syndrome.
  • To discuss common symptoms, differential diagnosis, diagnostic procedures, and treatment strategies.

Main Methods:

  • Literature review of Kleine-Levin syndrome.
  • Inclusion of current updates on functional imaging and neuropsychological studies.

Main Results:

  • KLS presents with specific hypersomnic episodes and associated cognitive/behavioral deficits.
  • Differential diagnosis and diagnostic workup are crucial for accurate identification.
  • Various treatment options exist, though management remains challenging.

Conclusions:

  • Accurate diagnosis of Kleine-Levin syndrome relies on recognizing characteristic symptoms and ruling out other conditions.
  • Ongoing research in functional imaging and neuropsychology offers insights into KLS pathophysiology and long-term effects.