JMJ

Marist Brothers
Notre Dame of Dadiangas University
Senior High School
General Santos City

General Biology 2

Genetic Disease: Tay-Sachs Disease

February 20, 2021

Submitted by:
De Castro, Fiona Lorraine
STEM 1210

Mr. Joel R. Penaflorida

Subject Matter Expert
Genetic Disease: Tay-Sachs Disorder

Introduction

The narrative of Tay- Sachs disease in 1981, A British ophthalmologist observed a one-year old

patient that has indisposed of a cherry-red eyed spot on the retina. It was Warren Tay who made an

delineate about this kind of condition. This patient conveying an indication of pragmatic central

nervous system deterioration as reflected a mentally and physically to ones child retardation. A

features of a cherry-red eyed spot is associated with metabolic neurodegenerative diseases including

as Sandhoff, GM-1, Niemann-Pick, and the lysosomal storage disorder designated as Tay-Sachs

Disease, in recognition of Tay. Bernard Sachs the neurologist wherein New York city, he depicted

the epigenetic responses present throughout the disorder including its prospects for genetic variation.

On the behalf of Warren Tay’s perception, Bernard Sachs stated that a higher incidence in Jews of

Eastern and Central European ancestry with distinctive disorder figure in a comparatively of early

childhood death, chronic redardation and blindness. (Kelley, 2012)

“Cherry-red spot” on the retina which is called the retinal

ophthalmoscopic appearance in neurometabolic disorders
Genetic Disease: Tay-Sachs Disorder

According to the blog article in Montana Gov. (n.d.), scientifically, neurological disorders are

characterized as abnormalities affecting the brain as well as the nerves located in the human body and the

spinal cord. A number of symptoms may result from structural, biochemical or neural defects in the brain,

spinal cord or even other nerves.

Additionally, in the blog article of Child Neurology Foundation. (2021), Human brain

development evolves during conception and progresses through puberty, early adolescence. Before birth,

most brain parts are manufactured, but the trillions of ties between these nerve cells (neurons) are not

created until infancy. A brain consists of white matter that adjacent on the myelin sheath which is called

the axons and also, grey matter the intersections and neurons of the brain. The carries impulses away from

the brain (above) called as the motor neuron.

Moreover, the Tay-Sachs disease is a fatal hereditary lipid accumulation disorder in which

tissues and nerve cells in the brain build up destructive levels of a fatty material called Ganglioside GM2.

In early childhood, as the brain grows, gangliosides are quickly formed and solubilized. Continue

developing normally during the first few months of life. Then a relentless degradation in mental and

physical capacities occurs as nerve cells become distended with fatty material. In patients in their twenties

and early thirties, a much rarer form of the condition occurs and is defined by an intermittent claudication

and gradual neurological deterioration. If required, prenatal diagnosis is accessible. (BrainFacts, n.d.)
Genetic Disease: Tay-Sachs Disorder

Causes

According to Myerowitz, R. (1997), in this journal article, stated that the causes of Tay-sachs

disease is the human mutation and neutral polymorphisms in the Hex A gene. It was delineate that has

been 78 mutations are itemized in Hex A gene, besides of that, there are many categorized of this disease

in particular of the benign processing a phenotypic range and neutral polymorphisms that has eight of

them.

Nevertheless, in the article of National Human Genome Research institute (2019), stated that, In

our genes have two copies, either one or both Hex A genes are involved. Due to us that body makes too

much of the enzyme to avoid the irregular build-up of the GM2 ganglioside lipid. Tay-Sachs recipients

are stable - individuals who may have one copy of the indolent gene along with one copy of the vital

gene. The deficiencies of this Tay-sachs in chromosome 15 gene that codes for the output of the Hex-A

enzyme.

Location of “Hex-A gene” in Human Mutations

Epidemiology
Genetic Disease: Tay-Sachs Disorder

Derived from the study of Ramani & Sankaran (2020), the population of this Tay-sachs disease

in general is infrequently. The occurrence about 1 – 100,000 live born children and frequency of the

carrier is about 1 in 250. In the Jewish population in the US, data on clinical features found a prevalence

of about 1 in 29, and 1 in 3500 cases reported were affected.

Furthermore, the affected populations of this Tay-sachs disease, both male and female are equal

in this data. Specifically, the affected of live born children about 1 in 3600 cases in Jewish population.

Some individuals of Italian, Irish Catholic and non-Jewish French Canadian descent, particularly those

living in the Cajun area of Louisiana and south-eastern Quebec, have also identified the disease. The

carrier prevalence for the genetic condition in the general population is roughly 1 in 250-300 entities.

(National Organization for Rare Disorders, 2017)

According to Neurol (2014), the result of the data is 83% of our patients were the descendants of

inbred marriages. As a chief concern, all of them had a developmental disability. The developmental

problems or regression was present in 38 percent of patients and 22 percent had seizures. Sandhoff and

Tay Sachs disease patients were accompanied for approximately 5 years and follow-up showed that all

patients were seriously ill or elapsed due to various derivative, aspiration of pneumonia or swallowing

disorders. About 48% of the patients that result of neuro-imaging included bilateral thalamic involvement,

brain atrophy, and hypo myelination

Process
Genetic Disease: Tay-Sachs Disorder

In the lysosome of nerve cells, B-hexosaminidase acts to break down unwanted ganglioside gm2,

a part of the membrane of the nerve cell. This consists of three main components: a (x-subunit,

b-subunit, and a subunit activitator. The alpha subunit of hexosaminidase dysfunction in Tay

sachs disease, leading to a toxic build-up in the lysosome of the gm2 ganglioside. (NCBI

bookshelf, 1998)

Characteristics & Symptoms

Genetic Disease: Tay-Sachs Disorder

As stated in the article of Mayo Clinic (2018), These are the common symptoms of Tay-sachs

disease in infant stages by 6 months old:

 Loss of motor skills, including turning over, crawling and sitting up

 Exaggerated reactions when the baby hears loud noises

 Seizures

 Vision and hearing loss

 "Cherry-red" spots in the eyes

 Muscle weakness

 Movement problems

According to the article of Medline Plus (2020), The characteristics of Tay-sachs disease

are: loss of muscle coordination (ataxia), and other problems with movement, speech problems,

and mental illness. These are the features of the vary individual who have a Tay-sachs disease.

Another symptoms that stated in the article of nhs.uk (2018) are: being overly startled by

noises and movement, floppiness and weakness, which keeps getting worse until they're unable

to move (paralysis), being  difficult to make milestones like learning to crawl, and losing skills

they have already learnt.

References:
Genetic Disease: Tay-Sachs Disorder

Tay-Sachs disease. (2010, October 29). HPS Repository Home.

https://hpsrepository.asu.edu/handle/10776/2299
SciELO. (n.d.). SciELO - Scientific Electronic Library Online. https://www.scielo.br/scielo.php
Tay-Sachs disease. (n.d.). MedlinePlus - Health Information from the National Library of
Medicine. https://medlineplus.gov/genetics/condition/tay-sachs-disease/
Neurological disorders. (n.d.). Montana Gov.
https://dphhs.mt.gov/schoolhealth/chronichealth/neurologicaldisorders
What is a Neurologic disorder? (2021, January 4). Child Neurology Foundation.
https://www.childneurologyfoundation.org/what-is-a-neurologic-disorder/
Tay Sachs disease. (n.d.). BrainFacts. https://www.brainfacts.org/diseases-and-
disorders/neurological-disorders-az/diseases-a-to-z-from-ninds/tay-sachs-disease
Myerowitz, R. (1997). Tay-Sachs disease-causing mutations and neutral polymorphisms in the
Hex A gene. Human Mutation, 9(3), 195–208. https://sci-hub.se/10.1002/(SICI)1098-
1004(1997)9:3%3C195::AID-HUMU1%3E3.0.CO;2-7#
About Tay-Sachs disease. (2019, March 9). Genome.gov. https://www.genome.gov/Genetic-
Disorders/Tay-Sachs-Disease
Hexa. (n.d.). Wikiwand. Retrieved February 17, 2021, from
https://www.wikiwand.com/en/HEXA
Tay-Sachs disease - StatPearls - NCBI bookshelf. (2020, November 17). National Center for
Biotechnology Information. https://www.ncbi.nlm.nih.gov/books/NBK564432/
Tay Sachs disease. (2017, January 26). NORD (National Organization for Rare Disorders).
https://rarediseases.org/rare-diseases/tay-sachs-disease/
GM2-gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and neuroimaging findings
(An Iranian pediatric case series). (2014). PubMed Central (PMC).
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135282/
Tay-Sachs disease - Symptoms and causes. (2018, May 16). Mayo Clinic.
https://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/symptoms-causes/syc-
20378190
Tay-Sachs disease. (2020, August 18). MedlinePlus - Health Information from the National
Library of Medicine. https://medlineplus.gov/genetics/condition/tay-sachs-disease/
Tay-Sachs disease. (2018, February 12). nhs.uk. https://www.nhs.uk/conditions/tay-sachs-

disease/
Genetic Disease: Tay-Sachs Disorder

Tay-Sachs disease - Genes and disease - NCBI bookshelf. (1998). National Center for

Biotechnology Information. https://www.ncbi.nlm.nih.gov/books/NBK22250/