Lipids and Tay-Sachs disease

Tay-Sachs disease is an autosomal recessive disorder of sphingolipid metabolism, caused by enzyme

hexosaminidase A deficiency that leads to an accumulation of GM2 in neurocytes which results in
progressive loss of neurological function. The accumulation oflipid in retinal ganglion cells that leads
to a chalk-white appearance of the fundus called 'cherry red spot' is the hallmark of Tay-Sachs disease.
It is also seen in others neurometabolic diseases as well as in central retinal artery occlusion. This case
reports a child withTay-Sachs disease in a family with four previous similar deaths without diagnostic.

Neurodegenerative lysosomal Tay–Sachs (TS) disease requires active hexosaminidase (Hex) A

production in the central nervous system and an efficient therapeutic approach that can act faster than
human disease progression.
Awesome research paper links
http://www.ruf.rice.edu/~bioslabs/tools/report/reportform.html
http://www.lynchburg.edu/x11027.xml

Include the culprit Gangliosides, and make sure to find enough RECENT articles.

Tay–Sachs Disease
E.H. Kolodnya
aNew York University School of Medicine, New York, NY, USA

Once its molecular pathogenesis became known, a family of diseases was discovered having in common nerve cell storage
of GM2 ganglioside but differing in their clinical aspects and molecular DNA abnormalities. Effective treatment remains
elusive, but the availability of animal models now permits trials of novel approaches to nervous system repair in Tay–Sachs
and related forms of GM2 gangliosidosis.

Tay-Sachs disease: The search for the enzymatic defect

Advances in Genetics, Vol. 44
The search for the enzymatic defect in Tay-Sachs disease began just over 40 years
ago with a simple galactose tolerance test in a patient with Gaucher disease.
It was known that patients with this disorder accumulated a sphingoglycolipid
called glucocerebroside and that was in contrast with the major sphingolipid of
brain, which is galactocerebroside. Since nothing whatsoever was known about
the metabolism of sphingolipids, one of the first investigations that appeared reasonable
was to determine whether Gaucher patients had a metabolic abnormality
that prevented the synthesis of galactocerebroside. This was initially approached
with the galactose tolerance test in a young woman with Gaucher disease. It was
found that the disposition of galactose by this individual was perfectly normal.
This observation led in turn to examining the synthesis of glucocerebroside and
galactocerebroside in surviving slices of human spleen tissue obtained at operation.
It was learned that the synthesis of both cerebrosides occurred normally.
Furthermore, there was no excessively rapid formation of glucocerebroside. These