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Related Concept Videos

Sleep-Wake Cycles01:24

Sleep-Wake Cycles

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Sleep is an essential physiological process vital to maintaining overall well-being. The reticular activating system (RAS), a network of neurons in the brainstem, regulates wakefulness and sleep. While it may seem passive, sleep consists of distinct cycles, each with its unique characteristics and functions. Two key sleep phases are non-rapid eye movement (NREM) and  rapid eye movement (REM).
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Narcolepsy01:07

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Narcolepsy is a chronic sleep disorder characterized by pervasive, uncontrolled sleepiness and other sleep disturbances. One of its hallmark symptoms is an abrupt transition to REM sleep upon falling asleep, which causes symptoms typically associated with this phase to occur unexpectedly during wakefulness. These include the following symptoms, which typically last from a minute or two to half an hour.
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At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
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Epistasis Analysis01:09

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Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
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Pleiotropy01:33

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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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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Related Experiment Video

Updated: Dec 30, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Aniridia with PAX6 mutations and narcolepsy.

Shala Ghaderi Berntsson1, Anna Kristoffersson1,2, Makrina Daniilidou1

  • 1Department of Neuroscience, Neurology, Uppsala University, Uppsala, Sweden.

Journal of Sleep Research
|January 17, 2020
PubMed
Summary

Mutations in the PAX6 gene can lead to aniridia and central nervous system (CNS) issues. This study found that PAX6 mutations are linked to narcolepsy and pineal gland hypoplasia, suggesting a complex sleep disorder cause.

Area of Science:

  • Genetics
  • Neurology
  • Ophthalmology

Background:

  • Mutations in the PAX6 gene are known to cause aniridia and central nervous system (CNS) abnormalities.
Keywords:
PAX6 haploinsufficiencyabsence of irisnarcolepsypineal gland atrophy

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  • Aniridia is frequently associated with CNS issues like pineal gland hypoplasia, potentially disrupting circadian rhythms and sleep.
  • The link between aniridia, PAX6 mutations, and narcolepsy is not well understood.