Surf1

The human genome consists of roughly 20,000 separate genes, which combine to create the blueprint that distinguishes each individual. Each gene contains instructions that define who you are - everything from your height and eye color to your ability to build bones, control digestion, and keep your heart beating.

 

SURF1 is the name of a critical gene that takes part in oxidative phosphorylation, which is the process that converts the food we eat into energy.  This activity takes place in the mitochondria, which serve as the power plant in each of our body’s cells. A defect in the SURF1 gene prevents mitochondria from producing enough energy for cells in the body to function normally, leading to a rare and progressive genetic disease called Leigh syndrome. 

 

Leigh Syndrome

Leigh syndrome is a severe neurodegenerative disease which typically presents itself during infancy or early childhood and offers a particularly grim prognosis. The condition is characterized by a progressive loss of mental

and movement abilities (psychomotor regression) which eventually leads to vision, renal, cardiac and respiratory complications, typically resulting in death in a few years.

 

Clinical presentation

Leigh syndrome primarily presents with central and peripheral nervous system abnormalities, characterized on an MRI by visible necrotizing bilateral lesions on the brain, particularly in the midbrain, basal ganglia and the brain stem. While early signs include failure to grow, seizures, general hypotonia and periodic episodes of acidosis; symptoms are mainly associated with progressive neurological deterioration and may include:

 

  • Loss of previously acquired motor skills (developmental regression)

  • Ataxia

  • Dsyphagia

  • Optic Atrophy

  • Opthalmoparesis

  • Deafness

  • Polyneuropathy

  • Myopathy

 

Inheritance & Statistics

Leigh syndrome can be inherited in different ways, depending upon the location of the gene in each person. It is most commonly inherited in an autosomal recessive manner, where the affected person inherits one mutated copy of the gene from each parent (carrier) in their nuclear DNA where the carrier themselves remain unaffected. Autosomal recessive inheritance applies to most of the genes in nuclear gene encoded Leigh syndrome, of which SURF1 is the most common.  It can also be inherited in a mitochondrial pattern, known as maternal inheritance and in a few cases where inheritance in the nuclear DNA is X-linked recessive.

 

Rare Diseases 

LS by definition is considered a rare disease, estimated to affect about 1 in 35,000 - 40,000 births for nuclear DNA, while mitochondrial DNA associated LS is rarer, affecting about 1 in 100,000 - 140,000 births.

A disease or disorder is rare, when it affects fewer than 200,000 Americans at any given time. There are about 7,000 rare diseases & disorders, that combined affect 30 million Americans - 1 in 10 of us, and more than half are children. People with rare diseases have tremendous unmet needs - including misdiagnosis, incorrect disease management and inadequate medical support, with the most important being a lack of cure - over 95% of rare diseases have no cure presently.

 

Search for a cure

While all individuals with LS have a serious deficiency in mitochondrial energy production, the presence of several different genetic defects causing the syndrome as well as the varied manifestation of the disease in each individual, has made finding a potential cure an extremely difficult challenge. Despite SURF1 being the most common sub-type of Leigh Syndrome, there is currently no known FDA treatment or cure. We believe the status quo is unacceptable for the hundreds of children fighting these rare, deadly diseases and hope to make a difference with our mission.

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Our mission is to fund SURF1 gene therapy research at UT Southwestern Medical Center in Dallas, Texas.  The field of gene therapy has gone through remarkable breakthroughs these last few years and offers incredible promise for genetic diseases such as SURF1 Leigh syndrome.

501(c)3:EIN: 82-4665767 

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