ミトコンドリア呼吸鎖複合体 V 欠損症 核型
ミトコンドリア呼吸鎖複合体 V 欠損症 ミトコンドリア型
NARP 症候群 [DS:H01363]
ミトコンドリア小児両側線条体壊死
Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation (HUMOP)

ミトコンドリア病 [DS:H01427]

De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, Smet J, Van Coster R

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12.

J Med Genet 41:120-4 (2004)
DOI:10.1136/jmg.2003.012047

Cizkova A, Stranecky V, Mayr JA, Tesarova M, Havlickova V, Paul J, Ivanek R, Kuss AW, Hansikova H, Kaplanova V, Vrbacky M, Hartmannova H, Noskova L, Honzik T, Drahota Z, Magner M, Hejzlarova K, Sperl W, Zeman J, Houstek J, Kmoch S

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.

Nat Genet 40:1288-90 (2008)
DOI:10.1038/ng.246

Mayr JA, Havlickova V, Zimmermann F, Magler I, Kaplanova V, Jesina P, Pecinova A, Nuskova H, Koch J, Sperl W, Houstek J

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.

Hum Mol Genet 19:3430-9 (2010)
DOI:10.1093/hmg/ddq254

Lines MA, Cuillerier A, Chakraborty P, Naas T, Duque Lasio ML, Michaud J, Pileggi C, Harper ME, Burelle Y, Toler TL, Sondheimer N, Crawford HP, Millan F, Geraghty MT

A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.

Eur J Hum Genet 29:1719-1724 (2021)
DOI:10.1038/s41431-021-00956-0

Jonckheere AI, Renkema GH, Bras M, van den Heuvel LP, Hoischen A, Gilissen C, Nabuurs SB, Huynen MA, de Vries MC, Smeitink JA, Rodenburg RJ

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.

Brain 136:1544-54 (2013)
DOI:10.1093/brain/awt086

Olahova M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Fresard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

Am J Hum Genet 102:494-504 (2018)
DOI:10.1016/j.ajhg.2018.01.020

Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.

Hum Mol Genet 27:3305-3312 (2018)
DOI:10.1093/hmg/ddy231

Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaec N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.

J Inherit Metab Dis 45:996-1012 (2022)
DOI:10.1002/jimd.12526

Tatuch Y, Christodoulou J, Feigenbaum A, Clarke JT, Wherret J, Smith C, Rudd N, Petrova-Benedict R, Robinson BH

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Am J Hum Genet 50:852-8 (1992)

Lopez-Gallardo E, Solano A, Herrero-Martin MD, Martinez-Romero I, Castano-Perez MD, Andreu AL, Herrera A, Lopez-Perez MJ, Ruiz-Pesini E, Montoya J

NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.

J Med Genet 46:64-7 (2009)
DOI:10.1136/jmg.2008.060616

Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.

Ann Neurol 38:468-72 (1995)
DOI:10.1002/ana.410380321

Ganetzky RD, Markhard AL, Yee I, Clever S, Cahill A, Shah H, Grabarek Z, To TL, Mootha VK

Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation.

N Engl J Med 387:1395-1403 (2022)
DOI:10.1056/NEJMoa2202949