Multiple mitochondrial dysfunctions syndrome

Definition:

Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe autosomal recessive disease with onset in early infancy. Pathogenic variations in genes encoding several components of the Fe-S cluster biogenesis machinery are already implicated in causing five types of MMDS. All MMDSs share variable neurodevelopmental delay, regression, seizures, lactic acidosis and leukodystrophy resulting in early death of affected individuals.

References:

[1]. Anju Shukla, et al. Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. J Hum Genet. 2017 Jul;62(7):723-727. [Content Brief]

[2]. F-Nora Vögtle, et al. Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood. Am J Hum Genet. 2018 Apr 5;102(4):557-573. [Content Brief]

[3]. Federica Invernizzi, et al. Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations. Front Genet. 2014 Nov 20;5:412. [Content Brief]

[4]. Jessie M Cameron, et al. Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. Am J Hum Genet. 2011 Oct 7;89(4):486-95. [Content Brief]

[5]. Nikhita Ajit Bolar, et al. Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. Hum Mol Genet. 2013 Jul 1;22(13):2590-602. [Content Brief]

[6]. Zuhair N Al-Hassnan, et al. ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. J Med Genet. 2015 Mar;52(3):186-94. [Content Brief]

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