Possible mitochondrial disorder - nuclear genes: genes and variants

Genes linked to Possible mitochondrial disorder - nuclear genes

• POLG: DNA polymerase subunit gamma-1

  It replicates and repairs mitochondrial DNA and is therefore essential for maintaining mitochondrial genome copy number and integrity. Pathogenic variants cause a broad spectrum including Alpers syndrome, progressive external ophthalmoplegia, epilepsy, ataxia, neuropathy, and liver disease.

  2 disease-causing and 0 uncertain variants in POLG are linked to Possible mitochondrial disorder - nuclear genes.

• SPG7: Mitochondrial inner membrane m-AAA protease component paraplegin

  It participates in mitochondrial inner-membrane protein quality control and respiratory homeostasis as part of the m-AAA protease machinery. Biallelic pathogenic variants cause SPG7-related disease, commonly presenting with spastic ataxia, optic neuropathy, or progressive gait impairment.

  2 disease-causing and 0 uncertain variants in SPG7 are linked to Possible mitochondrial disorder - nuclear genes.

• ACAD9: Complex I assembly factor ACAD9, mitochondrial

  It supports mitochondrial energy production through long-chain fatty-acid oxidation and also functions as an assembly factor for respiratory-chain complex I. Biallelic pathogenic variants can cause complex I deficiency, cardiomyopathy, exercise intolerance, and other mitochondrial disease manifestations.

  1 disease-causing and 0 uncertain variants in ACAD9 are linked to Possible mitochondrial disorder - nuclear genes.

Known disease-causing variants in Possible mitochondrial disorder - nuclear genes

Same protein, different disease

• Progressive sclerosing poliodystrophy is also caused by POLG variants; they fall mostly in different places as the Possible mitochondrial disorder - nuclear genes variants (77 disease-causing).
• Mitochondrial DNA depletion syndrome is also caused by POLG variants; they fall mostly in different places as the Possible mitochondrial disorder - nuclear genes variants (26 disease-causing).
• Progressive external ophthalmoplegia with mitochondrial DNA deletions is also caused by POLG variants; they fall mostly in different places as the Possible mitochondrial disorder - nuclear genes variants (17 disease-causing).
• Mitochondrial disease is also caused by POLG variants; they fall mostly in different places as the Possible mitochondrial disorder - nuclear genes variants (6 disease-causing).
• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis is also caused by POLG variants; they fall mostly in different places as the Possible mitochondrial disorder - nuclear genes variants (6 disease-causing).
• Hereditary spastic paraplegia is also caused by SPG7 variants; they fall mostly in different places as the Possible mitochondrial disorder - nuclear genes variants (26 disease-causing).
• Acyl-CoA dehydrogenase 9 deficiency is also caused by ACAD9 variants; they fall mostly in different places as the Possible mitochondrial disorder - nuclear genes variants (24 disease-causing).
• Mitochondrial complex I deficiency is also caused by ACAD9 variants; they fall mostly in different places as the Possible mitochondrial disorder - nuclear genes variants (9 disease-causing).

Diseases related to Possible mitochondrial disorder - nuclear genes

• Hereditary spastic paraplegia, also linked to POLG and SPG7
• Mitochondrial disease, also linked to POLG and SPG7
• Mitochondrial DNA maintenance disorder, also linked to POLG and SPG7
• Hypertrophic cardiomyopathy, also linked to ACAD9
• Progressive sclerosing poliodystrophy, also linked to POLG
• Mitochondrial DNA depletion syndrome, also linked to POLG
• Acyl-CoA dehydrogenase 9 deficiency, also linked to ACAD9
• Fanconi anemia, also linked to POLG
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, also linked to POLG
• Mitochondrial complex I deficiency, also linked to ACAD9
• Hereditary pancreatitis, also linked to SPG7
• Spastic ataxia, also linked to SPG7

Frequently asked questions

Which genes are linked to Possible mitochondrial disorder - nuclear genes?

In CATVariant, Possible mitochondrial disorder - nuclear genes is linked to 3 analyzed proteins: POLG (DNA polymerase subunit gamma-1), SPG7 (Mitochondrial inner membrane m-AAA protease component paraplegin) and ACAD9 (Complex I assembly factor ACAD9, mitochondrial).

How many genetic variants are linked to Possible mitochondrial disorder - nuclear genes?

5 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.

Which uncertain variants in Possible mitochondrial disorder - nuclear genes look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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