Lysosomal Storage Disease Video Mnemonic

Here's a simple way to remember key facts about the Lysosomal Storage diseases:

Read more: Lysosomal Storage Diseases

Category: Genetics Mnemonics

Hutchinson-Gilford Progeria Syndrome (HGPS)

“pro” "geras" the Greek words for “before”  “old age”

  • Very rare fatal genetic disease
  • Characterized by premature aging
  • Autosomal dominant mutation in in the LMNA gene
  • Point mutation which produces a truncated version of lamin A protein called progerin.
  • Dominant Negative effect of mutant Lamin A protein (progerin) appears to destabilize the cell's nuclear membrane in a way that may be particularly harmful to tissues routinely subjected to intense physical force, such as the skin, cardiovascular, and musculoskeletal systems

Read more: Progeria Facts #1

Category: Genetics Mnemonics

Progeria

 

 

Here's some key facts and a good video about happiness from a 17 year old adolescent with progeria:

Video Source: TedxMidAtlantic 2013

Category: Genetics Mnemonics

Adult Progeria (Werner's Syndrome)

  • Form of Progeria that has a later onset.
  • Autosomal Recessive mutation in the WRN gene which codes for DNA helicase.
  • Mutation leads to inability to repair DNA damage and replication defects resulting in the accumulation of damage and premature cellular aging.
  • Develop disorders of aging early in life such as: Cataracts, Type 2 Diabetes, Gray hair and Hair loss, Osteoporosis, atherosclerosis, and cancers.
  • Premature death from cardiovascular disease or cancer.

Table comparing Progeria vs Werner Syndrome

 

In the movie "Jack", Robbin Williams plays a 10-year-old boy with adult progeria:
 

"Robbin Williams stars as a mischievous 10-year-old who acts like any other boy his age, except he's in a grown-up's body."  

Watch the trailor for the movie "Jack" below and notice that they make a minor mistake.  The doctor says that "His cells are developing at 4 times the normal rate" but he should have said that his cells are aging at a faster rate!

 

Quote from Jack's final Graduation speech:

"But I say to you, "Hey, look at me." Please, don't worry so much, 'cause in the end none of us have very long on this earth. Life is fleeting. And if you're ever distressed, cast your eyes to the summer sky, when the stars are strung across the velvety night, and when a shooting star streaks through the blackness turning night into day -- make a wish think of me. And make your life spectacular. I know I did."  - Jack

Category: Genetics Mnemonics

Progeria vs Werner Syndrome

Here's a comparison of Progeria and Werners syndrome which are both characterized by premature aging.

Read more: Progeria vs Werner Syndrome

Category: Genetics Mnemonics

Sturge Weber Syndrome

A neurocutaneous syndrome (Phakomatosis) that is caused by a sporadic congenital error in the development of the ectoderm (skin and CNS) and mesoderm (blood vessels) resulting in angiomas of the face and brain.

Characteristic features include:

  • Port wine stain (nevus flammeus) located on the face in the trigeminal nerve distribution
  • Ipsilateral leptomeningeal angiomas => "tram track" calcifications on CT scan
  • Seizures
  • intellectual disability
  • increased risk of glaucoma

 

A genetic somatic activating mutation in the GNAQ gene during fetal development has been found to cause both port wine stains (a common congenital malformation) and the Sturge Weber Syndrome.

  • GNAQ gene codes for a Gq protein that is associated with G-protein coupled receptors and can activate phospholipase C.
  • A somatic mutation during development explains the fact that these disorders occur sporadically and are not inherited!

 

 

 

 

Pathology of the Stars:

Former President of the Soviet Union, Mikhail Gorbachev has a port-wine stain (nevus flammeus) on his forhead.

 

 

 

 

 

Photo Attribution: RIA Novosti archive, image #850809 / Vladimir Vyatkin / CC-BY-SA 3.0

Category: Genetics Mnemonics

Tuberous Sclerosis

Here's a neat way to remember some of the key features of Tuberous Sclerosis:

Read more: Tuberous Sclerosis Mnemonic

Category: Genetics Mnemonics

Arabic Mnemonic for the Lynch Syndrome (HNPCC)

Here's a way to use Arabic to remember the key points of the Lynch Syndrome:

 

Category: Genetics Mnemonics

Chromosome Numbers

Here's how to remember the chromosome number for autosomal dominant polycystic kidney disease and Polyposis:

Read more: Barone Mnemonic: Chromosome Numbers

Category: Genetics Mnemonics

Genomic Imprinting

Here’s a simple way to remember the deletions in Genomic Imprinting :

Read more: Barone Mnemonic: Genomic Imprinting

Category: Genetics Mnemonics

Pedigree Analysis

Which of the following is the most likely inheritance of this disorder?









Please answer the question.

Read more: Pedigree Analysis Quiz

Category: Genetics Mnemonics

Chromosome Cheatsheet

Here are some of the most important chromosome associations that you should know for boards and wards!:

Read more: Chromosome Cheatsheet

Category: Genetics Mnemonics

Marfan Syndrome Mnemonic

Here's a way to use the "name" to remember some important features of Marfans Syndrome:

Read more: BaroneMnemonic: Marfan Syndrome

Category: Genetics Mnemonics

Edwards Syndrome (Trisomy 18)

Here's a cool way for football fans to remember some of the features of Edwards Syndrome by using Peyton Manning!

Read more: BaroneMnemonic: Edwards Syndrome

Category: Genetics Mnemonics

Patau Syndrome

Here's how to remember some important features of this trisomy:

Read more: Barone Mnemonic: Patau

Category: Genetics Mnemonics

Patau Syndrome Mnemonic

Here's a way to remember some important features of Patau Syndrome (Trisomy 13) using the word "Microcephaly":

Read more: Barone Video Mnemonic: Patau Syndrome

Category: Genetics Mnemonics

Rett Syndrome

 

  • Rare genetic neurodevelopmental disorder affecting mostly females.
  • Caused by mutations in the MECP2 gene on the X chromosome.
  • The majority of cases are caused by new mutations.
  • They often exhibit autistism-like features in the early stages.
  • Repetitive hand wringing or moving their hands to their mouth is a charaterisitic hallmark feature!

Read more about the features of Rett Syndrome at the NINDS.

Category: Genetics Mnemonics

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