The Stennis Foundation is a registered nonprofit organization based in the U.S. The foundation is primarily a fundraising organization, sending money to various research projects. Currently, the Stennis Foundation supports research at Duke, Kennedy Krieger, and San Raffaele Institute in Milan, Italy.
According to their website, the Stennis Foundation is committed to raising public awareness regarding the leukodystrophies, and funds for related research. Their goal is to advance research through proper funding. Their mission statement is, "One Step Closer to a Cure."
Leukodystrophy is one of a group of disorders characterized by degeneration of the white matter in the brain. The word leukodystrophy comes from the Greek roots leuko, "white", dys, "abnormal", and troph, "growth". The leukodystrophies are caused by imperfect growth or development of the myelin sheath, the fatty insulating covering around nerve fibers.
The foundation's beginnings were inspired by Dr. Sam Stennis, a former optometrist in Amarillo, Texas, who, at age 47, was diagnosed with adult-onset metachromatic leukodystrophy.
Metachromatic leukodystrophy is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids. Leukodystrophies affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous systems. MLD involves cerebroside sulfate accumulation. Metachromatic leukodystrophy, like most enzyme deficiencies, has an autosomal recessive inheritance pattern.
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Canavan disease, also called Canavan–van Bogaert–Bertrand disease, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain, and is one of the most common degenerative cerebral diseases of infancy. It is caused by a deficiency of the enzyme aminoacylase 2, and is one of a group of genetic diseases referred to as leukodystrophies. It is characterized by degeneration of myelin in the phospholipid layer insulating the axon of a neuron and is associated with a gene located on human chromosome 17.
Numerous genetic disorders are caused by errors in fatty acid metabolism. These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to oxidize fatty acids in order to produce energy within muscles, liver, and other cell types.
A lipid storage disorder can be any one of a group of inherited metabolic disorders in which harmful amounts of fats or lipids accumulate in some of the body’s cells and tissues. People with these disorders either do not produce enough of one of the enzymes needed to metabolize and break down lipids or they produce enzymes that do not work properly. Over time, this excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen and bone marrow.
Sphingolipidoses are a class of lipid storage disorders relating to sphingolipid metabolism. The main members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive. Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000, but substantially more in certain populations such as Ashkenazi Jews. Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
Sulfatide, also known as 3-O-sulfogalactosylceramide, SM4, or sulfated galactocerebroside, is a class of sulfolipids, specifically a class of sulfoglycolipids, which are glycolipids that contain a sulfate group. Sulfatide is synthesized primarily starting in the endoplasmic reticulum and ending in the Golgi apparatus where ceramide is converted to galactocerebroside and later sulfated to make sulfatide. Of all of the galactolipids that are found in the myelin sheath, one fifth of them are sulfatide. Sulfatide is primarily found on the extracellular leaflet of the myelin plasma membrane produced by the oligodendrocytes in the central nervous system and in the Schwann cells in the peripheral nervous system. However, sulfatide is also present on the extracellular leaflet of the plasma membrane of many cells in eukaryotic organisms.
Arylsulfatase A is an enzyme that breaks down sulfatides, namely cerebroside 3-sulfate into cerebroside and sulfate. In humans, arylsulfatase A is encoded by the ARSA gene.
The Myelin Project is 501(c)(3) nonprofit organization established in 1989 by Augusto Odone and his wife, Michaela. Their son, Lorenzo, suffered from adrenoleukodystrophy (ALD), the most common of the leukodystrophies. The story of the Odones' struggle was dramatized in the 1992 film Lorenzo's Oil.
Prosaposin, also known as PSAP, is a protein which in humans is encoded by the PSAP gene.
Leukoencephalopathy with vanishing white matter is an autosomal recessive neurological disease. The cause of the disease are mutations in any of the 5 genes encoding subunits of the translation initiation factor EIF-2B: EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5. The disease belongs to a family of conditions called the Leukodystrophies.
Sulfatidosis is a form of lysosomal storage disease resulting in a proliferation of sulfatide.
A pseudodeficiency allele or pseudodeficiency mutation is a mutation that alters the protein product or changes the gene's expression, but without causing disease. For example, in the lysosomal storage diseases, patients with a pseudodeficiency allele show greatly reduced enzyme activity, yet they remain clinically healthy.
A hereditary CNS demyelinating disease is a demyelinating central nervous system disease that is primarily due to an inherited genetic condition.
A cherry-red spot is a finding in the macula of the eye in a variety of lipid storage disorders and in central retinal artery occlusion.
It describes the appearance of a small circular choroid shape as seen through the fovea centralis.
Its appearance is due to a relative transparency of the macula; storage disorders cause the accumulation of storage material within the cell layers of the retina, however, the macula, which is relatively devoid of cellular layers, does not build up this material, and thus allows the eye to see through the macula to the red choroid below.
Bimal Kumar Bachhawat (1925–1996) was an Indian neurochemist and glycobiologist, known for his discovery of HMG-CoA lyase, an intermediate in the mevalonate and ketogenesis pathway, and for the elucidation of the molecular cause of Metachromatic leukodystrophy, a hereditary disease of the brain His studies on sugar-bearing liposomes led to its use as a carrier for in situ delivery of drugs and hormones to diseased organs and he pioneered the therapy of systemic fungal infections using liposomal formulations. He was a recipient of several awards including the Shanti Swarup Bhatnagar Award, the highest Indian honor in science and technology and an elected fellow of three major Indian science academies. The Government of India awarded him the third highest civilian honour of the Padma Bhushan, in 1990, for his contributions to science.
