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SPG7 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SPG7 gene

The SPG7 gene is responsible for producing the protein paraplegin, a vital component of the m-AAA protease complex that maintains mitochondrial health and function.

Normal Function

The SPG7 gene provides instructions for producing a protein called paraplegin, which is a member of the AAA protein family. This protein family plays a role in many cellular activities, including regulation of cell components and proteins. Located within the inner membrane of the energy-producing centers of cells (mitochondria), paraplegin is one of the proteins that form a complex called the m-AAA protease. The m-AAA protease is responsible for assembling ribosomes (cellular structures that process the cell's genetic instructions to create proteins) and removing nonfunctional proteins in the mitochondria.

Health Conditions Related to Genetic Changes

Spastic paraplegia type 7

More than 100 mutations in the SPG7 gene have been found to cause spastic paraplegia type 7. This condition is characterized by muscle weakness, progressive muscle stiffness (spasticity) in the legs, and difficulty walking. Most of the SPG7 gene mutations change single protein building blocks (amino acids) in the paraplegin protein. When paraplegin is altered, it cannot organize with other proteins within the mitochondria to form the m-AAA protease. The buildup of unusable proteins in nerve cells, caused by the nonfunctional m-AAA protease, can impair mitochondrial functioning and diminish nerve cell signaling, leading to the major signs and symptoms of spastic paraplegia type 7.

Progressive external ophthalmoplegia

MedlinePlus Genetics provides information about Progressive external ophthalmoplegia.

Frequently Asked Questions

The earliest signs of spastic paraplegia type 7 (SPG7) usually involve progressive muscle weakness and stiffness (spasticity) in the legs, leading to difficulties with walking, balance, and frequent tripping. Individuals may notice a change in their gait, often described as stiff or scissoring. These symptoms typically begin in adulthood and gradually worsen over time.
Spastic paraplegia type 7 is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated SPG7 gene, one from each parent, to develop the condition. Parents who are carriers (having one mutated copy) typically do not show symptoms. For each child of two carriers, there is a 25% chance of inheriting the condition, a 50% chance of being a carrier, and a 25% chance of being unaffected and not a carrier. Genetic counseling is recommended for affected individuals and their families.
Management of SPG7 focuses on alleviating symptoms and improving quality of life. Physical therapy is essential to maintain muscle strength, flexibility, and range of motion, and to reduce spasticity. Occupational therapy can help adapt daily activities. Medications such as baclofen, tizanidine, or botulinum toxin injections may be prescribed to reduce muscle spasms and stiffness. Assistive devices like orthotics, canes, or walkers can also aid mobility.
While spastic paraplegia type 7 is the primary condition, SPG7 mutations can also be associated with Progressive External Ophthalmoplegia (PEO). PEO is characterized by weakness of the eye muscles, leading to drooping eyelids (ptosis) and difficulty moving the eyes. Therefore, individuals with an SPG7 mutation should have their eye movements and vision regularly assessed as part of their comprehensive neurological care.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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