SSBP1(Single-Stranded DNA-Binding Protein 1) is a gene that encodes a protein involved in DNA replication and maintenance of mitochondrial DNA (mtDNA). The function of the single-stranded DNA binding protein is to bind and protect single strand DNA during the replication of the mitochondrial DNA genome. Mutations in the SSBP1gene have been linked to a rare mitochondrial disorder characterized by various symptoms.
Nearly all patients with disease associated SSBP1mutation suffer from optic atrophy, although many also experience a variety of additional symptoms. Neurological dysfunction relating to the eyes (retinopathy, foveopathy, ptosis, ophthalmoplegia) and ears (sensorineural hearing loss) is common among these patients. In a handful of patients, the multi-system disorders characteristic of mtDNA replication diseases are apparent; kidney disease (nephropathy), musculoskeletal issues (ataxia, growth failure, cardiomyopathy), metabolic strokes, infantile anemia, and other symptoms were reported in some patients. mtDNA depletion was reported in most of the patients, although both mtDNA deletions and depletion were reported in c.3G>A/m.1555A>G patients, only a single large-scale mtDNA deletion (SLSMD) in the c.79G>A patient, and no mtDNA phenotype for the c.422G>A patient.
Mitochondrial diseases are a group of genetic disorders that affect the function of mitochondria, which are the energy-producing structures within cells. These disorders can manifest in different ways depending on the specific genes and mitochondrial functions affected.
SSBP1