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The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
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Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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CADASIL with a novel NOTCH3 mutation (Cys478Tyr).

Kokoro Ozaki1, Takashi Irioka2, Kinya Ishikawa1

  • 1Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association
|January 18, 2015
PubMed
Summary

This study identifies a novel NOTCH3 gene mutation in a Japanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Early genetic testing is recommended for patients with characteristic MRI findings, even with mild symptoms like chronic headaches.

Keywords:
C478YCADASILCys478TyrNOTCH3cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathymutation

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Area of Science:

  • Neurology
  • Genetics
  • Vascular Biology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disease.
  • NOTCH3 gene mutations are increasingly recognized as a cause of CADASIL.
  • Early diagnosis and understanding the genetic basis are crucial for managing CADASIL.

Observation:

  • Two patients from a Japanese family presented with mild clinical symptoms, including chronic headache and a history of minor stroke.
  • Distinctive magnetic resonance imaging (MRI) features were observed, suggestive of CADASIL.
  • A novel heterozygous NOTCH3 mutation (p.Cys478Tyr) was identified in both patients, resulting in cysteine loss.

Findings:

  • The identified NOTCH3 mutation, p.Cys478Tyr, is a new cause of CADASIL.
  • The mutation leads to a loss of a critical cysteine residue in the NOTCH3 protein.
  • Clinical presentation can be mild, even with a confirmed NOTCH3 mutation.

Implications:

  • Genetic testing for NOTCH3 mutations should be considered in patients with suggestive MRI findings, regardless of symptom severity.
  • This discovery broadens the known spectrum of NOTCH3 mutations associated with CADASIL.
  • Further research into the genotype-phenotype correlation in CADASIL is warranted.