Skip to main content
Toggle User Menu

HHMI BioInteractive

  • Español
  • Search
  • Log In/Create Account
  • Classroom Resources
  • Planning Tools
  • Professional Development
  • About Us

Origin of a Gene Mutation Causing Early-Onset Alzheimer’s Disease

Topic
  • Genetics
  • Patterns of Inheritance
  • Genetic Disease
  • Science Practices
  • Graph Interpretation
Resource Type
  • Activities
  • Data Points
Level
High School — GeneralHigh School — AP/IBCollege
Favorited By
17 Users
Share This
View in Spanish
Description

This activity analyzes a published scientific figure from a study of a family that has a high prevalence of Alzheimer’s disease.

A rare form of familial Alzheimer’s disease, which is caused by a mutation in the presenilin-1 gene (PSEN1), is highly prevalent in some parts of Antioquia, Colombia. To understand the origin of this mutation in these populations, scientists studied the family histories and DNA sequences of people affected by the disease. The figure is a pedigree of a large extended family with a high prevalence of Alzheimer’s. Black circles (female) and black squares (male) indicate individuals affected by the disease. Half-shaded shapes indicate individuals with an uncertain disease status. White shapes indicate unaffected individuals. Shapes with a line through them indicate that the family member is deceased. The “Educator Materials” document includes a captioned figure, background information, graph interpretation, and discussion questions. The “Student Handout” includes a captioned figure and background information.

 

Student Learning Targets
  • Analyze and interpret data from a scientific figure. 
  • Interpret a pedigree chart showing an example of autosomal dominant inheritance.
     
Details
Estimated Time
Within one 50-minute class period.
Key Terms

ancestry, autosomal dominance, genealogy, pedigree chart, presenilin-1 (PSEN1)

Primary Literature

Lalli, Matthew A., Hannah C. Cox, Mary L. Arcila, Liliana Cadavid, Sonia Moreno, Gloria Garcia, Lucia Madrigal, et al. ”Origin of the PSEN1 E280A Mutation Causing Early-Onset Alzheimer’s Disease.” Alzheimers Dement 10, 0 (2014): S277–S283.e10. https://doi.org/10.1016/j.jalz.2013.09.005.

Terms of Use

Please see the Terms of Use for information on how this resource can be used.

Accessibility Level

The documents for this resource meet accessibility standards in accordance with the final rule for Section 508 of the National Rehabilitation Act.
Version History
Date Published 05.27.16
Date Updated 05.27.16
Curriculum Connections
NGSS (2013)

HS-LS3-3; SEP2, SEP4, SEP5

AP Biology (2019)

IST-1.I, IST-1.J; SP1, SP4

IB Biology (2016)

3.4

AP Environmental Science (2013)

III.B

Common Core (2010)

ELA.RST.9-12.7
Math.S-ID.3, Math.S-IC.1; MP2, MP5

Vision and Change (2009)

CC1, CC3; DP2, DP3

Materials
Image (JPG) 98 KB
Educator Materials (PDF) 1 MB
Student Handout (PDF) 910 KB
Educator Materials - Español (PDF) 921 KB
Student Handout - Español (PDF) 712 KB

Explore Related Content

Other Resources About Alzheimer's Disease
Showing of
Click & Learn
Alzheimer’s Disease: Piecing Together the Evidence
Data Points
Sleep Clears β-amyloid from the Brain
Other Related Resources
Showing of
Lessons
Analyzing Pedigrees
Short Films
Genes as Medicine
Film Activities
Activity for Genes as Medicine
Screenshot of a portion of a genealogy diagram
Lessons
Inheritance and Mutations in a Single-Gene Disorder
Data Points
Efficacy of a Medication for Chronic Myeloid Leukemia
Short Films
The Making of the Fittest: Natural Selection in Humans
Virtual Labs
Cardiology Virtual Lab
Film Activities
Activity for Natural Selection in Humans
Lessons
Sickle Cell Disease and Malaria: A Lesson on the Nature of Science
Data Points
Identifying Autism Genes by Tracking Gene Mutations

HHMI BioInteractive

  • Facebook
  • Instagram
  • Twitter
  • YouTube
  • Newsletter Signup
  • HHMI.org
  • Terms of Use
  • Privacy Policy