P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9.
Ann Clin Transl Neurol
; 6(8): 1533-1540, 2019 08.
Article
em En
| MEDLINE
| ID: mdl-31402623
ABSTRACT
In 2015-2016, we and others reported ALDH18A1 mutations causing dominant (SPG9A) or recessive (SPG9B) spastic paraplegia. In vitro production of the ALDH18A1 product, Δ1 -pyrroline-5-carboxylate synthetase (P5CS), appeared necessary for cracking SPG9 disease-causing mechanisms. We now describe a baculovirus-insect cell system that yields mgs of pure human P5CS and that has proven highly valuable with two novel P5CS mutations reported here in new SPG9B patients. We conclude that both mutations are disease-causing, that SPG9B associates with partial P5CS deficiency and that it is clinically more severe than SPG9A, as reflected in onset age, disability, cognitive status, growth, and dysmorphic traits.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osso e Ossos
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Catarata
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Paraplegia Espástica Hereditária
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Aldeído Desidrogenase
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Transtornos do Crescimento
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
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Animals
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Humans
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Male
Idioma:
En
Revista:
Ann Clin Transl Neurol
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Itália