Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia.
Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia.
复制标题
DOI：
10.1016/j.ymgmr.2017.07.004
复制
发表时间：
2017-12
影响因子：
1.9
通讯作者：
Ferreira CR
中科院分区：
文献类型：
--
作者：
Muriello MJ;Viall S;Bottiglieri T;Cusmano-Ozog K;Ferreira CR
甲硫氨酸腺苷转移酶 (MAT) I/III 缺乏症是由 MAT1A 突变引起的先天性代谢缺陷，MAT1A 编码负责合成 S-腺苷甲硫氨酸的 MAT 催化亚基，其特征是持续性高甲硫氨酸血症。虽然历史上被认为是隐性遗传病，但会出现较温和的常染色体显性形式的 MAT I/III 缺陷，尽管只有最常见的突变 p.Arg264His 有充分的证据证明显性遗传。我们报告了一例由 p.Ala259Val 取代引起的高蛋氨酸血症，并通过显示该突变的母系遗传和伴随的高蛋氨酸血症提供了常染色体显性遗传的证据。 p.Ala259Val 突变落在二聚体界面，因此可能通过与先前报道的显性失活突变中描述的类似机制导致显性遗传，即通过干扰野生型等位基因编码的亚基。
Methionine adenosyltransferase (MAT) I/III deficiency is an inborn error of metabolism caused by mutations in MAT1A, encoding the catalytic subunit of MAT responsible for the synthesis of S-adenosylmethionine, and is characterized by persistent hypermethioninemia. While historically considered a recessive disorder, a milder autosomal dominant form of MAT I/III deficiency occurs, though only the most common mutation p.Arg264His has ample evidence to prove dominant inheritance. We report a case of hypermethioninemia caused by the p.Ala259Val substitution and provide evidence of autosomal dominant inheritance by showing both maternal inheritance of the mutation and concomitant hypermethioninemia. The p.Ala259Val mutation falls in the dimer interface, and thus likely leads to dominant inheritance by a similar mechanism to that described in the previously reported dominant negative mutation, that is, by means of interference with subunits encoded by the wild-type allele.
登录
查看更多内容
影响因子：
14.9
作者：
NCBI Resource Coordinators
通讯作者：
NCBI Resource Coordinators
影响因子：
4.2
作者：
Baric, Ivo;Staufner, Christian;Augoustides-Savvopoulou, Persephone;Chien, Yin-Hsiu;Dobbelaere, Dries;Grunert, Sarah C.;Opladen, Thomas;Ramadza, Danijela Petkovic;Rakic, Bojana;Wedell, Anna;Blom, Henk J.
通讯作者：
Blom, Henk J.
影响因子：
5.6
作者：
González, B;Pajares, MA;Sanz-Aparicio, J
通讯作者：
Sanz-Aparicio, J
影响因子：
5.7
作者：
Kim, Yoo-Mi;Kim, Ja Hye;Lee, Beom Hee
通讯作者：
Lee, Beom Hee
影响因子：
3.7
作者：
Chien YH;Abdenur JE;Baronio F;Bannick AA;Corrales F;Couce M;Donner MG;Ficicioglu C;Freehauf C;Frithiof D;Gotway G;Hirabayashi K;Hofstede F;Hoganson G;Hwu WL;James P;Kim S;Korman SH;Lachmann R;Levy H;Lindner M;Lykopoulou L;Mayatepek E;Muntau A;Okano Y;Raymond K;Rubio-Gozalbo E;Scholl-Bürgi S;Schulze A;Singh R;Stabler S;Stuy M;Thomas J;Wagner C;Wilson WG;Wortmann S;Yamamoto S;Pao M;Blom HJ
通讯作者：
Blom HJ