Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical...

Area of Science:

• Neuroscience
• Genetics
• Rare Diseases

Background:

• Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare, inherited neurological disorder.
• MPAN is characterized by progressive neurodegeneration and iron accumulation in the brain.
• It is genetically linked to mutations in the C19orf12 gene.

Observation:

• This study presents two cases of MPAN from Turkey.
• Both patients were found to have homozygous pathogenic variants in the C19orf12 gene.
• One case exhibited late-onset MPAN due to a common pathogenic variant, while the other had an essential splice-site variation.

Findings:

• Genetic analysis confirmed homozygous pathogenic variants in C19orf12 in both MPAN cases.
• The identified variants, a common pathogenic variant and a splice-site variation, were associated with MPAN.
• These findings highlight the role of C19orf12 in MPAN pathogenesis.

Implications:

• This research expands the understanding of C19orf12 mutations in MPAN.
• The study contributes to the genetic diagnosis and characterization of MPAN patients.
• Further research into C19orf12 variants may reveal therapeutic targets for neurodegeneration with brain iron accumulation disorders.