Stephanie Belanger January 12, 2009 AP Bio. What is Tay-Sachs Disease? An inherited autosomal...

11
Stephanie Belanger January 12, 2009 AP Bio

TAGS:

Transcript of Stephanie Belanger January 12, 2009 AP Bio. What is Tay-Sachs Disease? An inherited autosomal...

Page 1: Stephanie Belanger January 12, 2009 AP Bio. What is Tay-Sachs Disease? An inherited autosomal recessive condition that causes progressive degeneration.

Stephanie Belanger

January 12, 2009

AP Bio

Page 2: Stephanie Belanger January 12, 2009 AP Bio. What is Tay-Sachs Disease? An inherited autosomal recessive condition that causes progressive degeneration.

What is Tay-Sachs Disease?

• An inherited autosomal recessive condition that causes progressive degeneration of the central nervous system

http://upload.wikimedia.org/wikipedia/commons/thumb/3/3e/Autorecessive.svg/300px-Autorecessive.svg.png

Page 3: Stephanie Belanger January 12, 2009 AP Bio. What is Tay-Sachs Disease? An inherited autosomal recessive condition that causes progressive degeneration.

Common Names

• B Variant GM2 Gangliosidosis

• GM2 Gangliosidosis, Type 1

• Hex A Deficiency

• Hexosaminidase A Deficiency

• Sphingolipiosis

• TSD

http://www.msgpp.org/images/Structures/Lmaj005461AAB_hex_view01_light_USF_phobic.png

Page 4: Stephanie Belanger January 12, 2009 AP Bio. What is Tay-Sachs Disease? An inherited autosomal recessive condition that causes progressive degeneration.

History

• In 1881, Warren Tay, British ophthalmologist, discovered a cherry red spot on the retina of an infant

• Several years later Bernard Sachs, a New York neurologist, provided the first description of cellular changes in Tay-Sachs disease

http://www.pfofflaserandeye.com/The%20Informed%20Patient/Patient%20Ed%20Common%20Eye%20Disorders/Retina/Retina%20jpgs/crao%20cherry.jpg

Page 5: Stephanie Belanger January 12, 2009 AP Bio. What is Tay-Sachs Disease? An inherited autosomal recessive condition that causes progressive degeneration.

Mode of Inheritance

• Autosomal Recessive Gene

• Both parents are carriers, child inherits both recessive genes

• Caused by a mutation of the Hex A gene on chromosome 15

http://www.sfn.org/SiteObjects/published/0000BDF20016F63800FD712C3158BA55/0000BDF2000006250110C68C4585

7663/file/bb_feb2007_large.jpg

Page 6: Stephanie Belanger January 12, 2009 AP Bio. What is Tay-Sachs Disease? An inherited autosomal recessive condition that causes progressive degeneration.

Tay-Sachs Description• Deafness

• Decreased Eye Contact

• Blindness

• Decreased Muscle Tone

• Delayed Mental and Social Skills

• Dementia

• Increased Startle Reaction

• Irritability

• Loss of Motor Skills

• Paralysis or loss of motor function

• Seizures

• Slow Growth http://www.curetay-sachs.org/gpx/dakota_260b.jpg

Page 7: Stephanie Belanger January 12, 2009 AP Bio. What is Tay-Sachs Disease? An inherited autosomal recessive condition that causes progressive degeneration.

Description Continued• Without the enzyme Hex A, GM2 begins to strangle the nerves in the brain and begins to kill off nerve cells

• Children usually die by age 5, but some live longer

• Most commonly inherited in Ashkenazi Jewish and French Canadian cultures

• 1 in every 250 contract Tay-Sachs disease in the general population

Page 8: Stephanie Belanger January 12, 2009 AP Bio. What is Tay-Sachs Disease? An inherited autosomal recessive condition that causes progressive degeneration.

Treatment

• No cure or treatment

• Suggested enzyme replacement therapy

• Substrate reduction drug

• Stem cell transplantation

http://www.usask.ca/alumni/alumnisite/publications/green_white/issues/spring2006/images/stem_cell1.jpg

Page 9: Stephanie Belanger January 12, 2009 AP Bio. What is Tay-Sachs Disease? An inherited autosomal recessive condition that causes progressive degeneration.

Detection

• Cannot be detected before symptoms appear

• Disorder tested for once parents notice considerable changes in child’s development and motor skills

• Small percentage detected prenatal, but has been found through chronic villus sampling (CVS)

http://images.main.uab.edu/healthsys/ei_0096.jpg

Page 10: Stephanie Belanger January 12, 2009 AP Bio. What is Tay-Sachs Disease? An inherited autosomal recessive condition that causes progressive degeneration.

Ethical Issues

• “What is normal and what is a disability or disorder, and who decides?”

• “Are disabilities diseases? Do they need to be cured or prevented?”

• “Does searching for a cure demean the lives of individuals presently affected by disabilities?”

• “In somatic gene therapy (which is done in the adult cells of persons known to have the disease) more or less ethical then germline gene therapy (which is done in egg and sperm cells and prevents the trait from going on to other generations?”

• “Preliminary attempts at gene therapy are exorbitantly expensive. Who will have access to these therapies? Who will pay for their use?”

Page 11: Stephanie Belanger January 12, 2009 AP Bio. What is Tay-Sachs Disease? An inherited autosomal recessive condition that causes progressive degeneration.

Legal Issues

• Human Experimentation

• Standard of Care

• Parental Authority

• Unfairness

• Negligence

http://www.csgv.org/atf/cf/%7B23E96A35-4C75-41EE-BDDD-4BD3A3B59010%7D/GAVEL_COURT.JPG


Mapping Autosomal Recessive Intellectual Disability ...1 Mapping Autosomal Recessive Intellectual Disability: Combined Microarray and Exome Sequencing Identifies 26 Novel Candidate

Mapping Autosomal Recessive Intellectual Disability ...1 Mapping Autosomal Recessive Intellectual Disability: Combined Microarray and Exome Sequencing Identifies 26 Novel Candidate

Novel mutations in PIEZO1 cause an autosomal recessive ...openaccess.sgul.ac.uk/107589/1/Novel mutations in... · Novel mutations in PIEZO1 cause an autosomal recessive generalized

Novel mutations in PIEZO1 cause an autosomal recessive ...openaccess.sgul.ac.uk/107589/1/Novel mutations in... · Novel mutations in PIEZO1 cause an autosomal recessive generalized

The Patterns of Genetic Inheritance By Dr. Joann Boughman, PhD Autosomal Dominant Autosomal Recessive X-linked Recessive X-linked Dominant Y-linked Imprinting.

The Patterns of Genetic Inheritance By Dr. Joann Boughman, PhD Autosomal Dominant Autosomal Recessive X-linked Recessive X-linked Dominant Y-linked Imprinting.

Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: … · 2020. 8. 12. · Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: ... Table 1 Clinical features of

Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: … · 2020. 8. 12. · Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: ... Table 1 Clinical features of

Autosomal Recessive Polycystic Kidney Disease (ARPKD) The disease ...

Autosomal Recessive Polycystic Kidney Disease (ARPKD) The disease ...

Autosomal recessive spastic ataxia of Charlevoix-Saguenay ... · Introduction: Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare neurodegenerative disease

Autosomal recessive spastic ataxia of Charlevoix-Saguenay ... · Introduction: Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare neurodegenerative disease

Autosomal Dominant and Autosomal Recessive Disordersdocs.neu.edu.tr/staff/huseyin.cagsin/Autosomal Dominant and Autosomal... · Introduction •Reminders on how to read a pedigree

Autosomal Dominant and Autosomal Recessive Disordersdocs.neu.edu.tr/staff/huseyin.cagsin/Autosomal Dominant and Autosomal... · Introduction •Reminders on how to read a pedigree

Clinical features and molecular genetics of autosomal recessive …sswang/CB-nonmotor/fogel... · 2011. 3. 8. · Clinical features and molecular genetics of autosomal recessive cerebellar

Clinical features and molecular genetics of autosomal recessive …sswang/CB-nonmotor/fogel... · 2011. 3. 8. · Clinical features and molecular genetics of autosomal recessive cerebellar

BDSRA 2015 Ambry autosomal recessive

BDSRA 2015 Ambry autosomal recessive

Autosomal dominant autosomal recessive X-linked …bogari.net/Bogari/Medical_Genetics_files/2-2 Patterens of...• Autosomal dominant • autosomal recessive • X-linked dominant

Autosomal dominant autosomal recessive X-linked …bogari.net/Bogari/Medical_Genetics_files/2-2 Patterens of...• Autosomal dominant • autosomal recessive • X-linked dominant

Autosomal recessive primary microcephaly (MCPH): clinical

Autosomal recessive primary microcephaly (MCPH): clinical

Thalassemia autosomal recessive disease

Thalassemia autosomal recessive disease

Mendelian Pedigree patterns Autosomal dominant Autosomal recessive X-Linked recessive X-linked dominant Y-linked.

Mendelian Pedigree patterns Autosomal dominant Autosomal recessive X-Linked recessive X-linked dominant Y-linked.

Autosomal dominant autosomal recessive X-linked dominant X-linked

Autosomal dominant autosomal recessive X-linked dominant X-linked

RESEARCH Open Access Autosomal recessive spastic ataxia of ... · RESEARCH Open Access Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical

RESEARCH Open Access Autosomal recessive spastic ataxia of ... · RESEARCH Open Access Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical

Autosomal recessive chondrodysplasia with severe short ...

Autosomal recessive chondrodysplasia with severe short ...

Autosomal Dominant and Recessive Osteochondrodysplasias ...

Autosomal Dominant and Recessive Osteochondrodysplasias ...

Principles of Inheritance and Variation...Select the autosomal dominant, autosomal recessive, X-sex linked recessive and Y-sex linked recessive disorders respectively (A) Myotonic

Principles of Inheritance and Variation...Select the autosomal dominant, autosomal recessive, X-sex linked recessive and Y-sex linked recessive disorders respectively (A) Myotonic

The Autosomal Recessive Polycystic Kidney Disease Protein ...autosomal recessive polycystic kidney disease is linked to the dysfunction of primary cilia. Polycystic kidney diseases

The Autosomal Recessive Polycystic Kidney Disease Protein ...autosomal recessive polycystic kidney disease is linked to the dysfunction of primary cilia. Polycystic kidney diseases

Harlequin ichthyosis and other autosomal recessive ...

Harlequin ichthyosis and other autosomal recessive ...