Genetics of malignant hyperthermia

被引：24

作者：

Brandom, Barbara W. ^{[1
]}

机构：

[1] Univ Pittsburgh, Med Ctr, Pittsburgh, PA 15260 USA

[2] Childrens Hosp Pittsburgh, Pittsburgh, PA 15213 USA

来源：

THESCIENTIFICWORLDJOURNAL | 2006年 / 6卷

关键词：

malignant hyperthermia; ryanodine receptor type one;

D O I：

10.1100/tsw.2006.289

中图分类号：

X [环境科学、安全科学];

学科分类号：

08 ; 0830 ;

摘要：

Study of the genetics of the malignant hyperthermia syndrome began in families in which both malignant hyperthermia (MH) episodes had been experienced and individuals had strongly positive contracture tests diagnostic of susceptibility to MH. Linkage studies associated this MH phenotype to the ryanodine receptor gene (RYR1) at chromosome 19q13.1 in many families. Although the MH phenotype is not always linked to chromosome 19, the RYR1 has remained the focus of experimentation. Other candidate genes exist, but few MH-susceptible families have variants of these genes. Hundreds of MH-susceptible people have variants of RYR1.

引用

页码：1722 / 1730

页数：9

共 61 条

[1] THE GENETICS OF MALIGNANT HYPERTHERMIA [J].

BALL, SP ;

JOHNSON, KJ .

JOURNAL OF MEDICAL GENETICS, 1993, 30 (02) :89-93

[2] Involvement of inositol 1,4,5-trisphosphate in nicotinic calcium responses in dystrophic myotubes assessed by near-plasma membrane calcium measurement [J].

Basset, O ;

Boittin, FX ;

Dorchies, OM ;

Chatton, JY ;

van Breemen, C ;

Ruegg, UT .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (45) :47092-47100

[3] Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations [J].

Brini, M ;

Manni, S ;

Pierobon, N ;

Du, GG ;

Sharma, P ;

MacLennan, DH ;

Carafoli, E .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2005, 280 (15) :15380-15389

[4] A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree [J].

Brown, RL ;

Pollock, AN ;

Couchman, KG ;

Hodges, M ;

Hutchinson, DO ;

Waaka, R ;

Lynch, P ;

McCarthy, TV ;

Stowell, KM .

HUMAN MOLECULAR GENETICS, 2000, 9 (10) :1515-1524

[5] Severe prognosis in a large family with hypokalemic periodic paralysis [J].

Caciotti, A ;

Morrone, A ;

Domenici, R ;

Donati, MA ;

Zammarchi, E .

MUSCLE & NERVE, 2003, 27 (02) :165-169

[6] Identification of new polymorphisms in the CACNA1S gene [J].

Carsana, A ;

Fortunato, G ;

De Sarno, C ;

Brancadoro, V ;

Salvatore, F .

CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2003, 41 (01) :20-22

[7]

Dirksen RT, 2004, BIOPHYS J, V87, P3193, DOI 10.1529/biophysj.104.049447

[8] Subproteomics analysis of Ca2+-binding proteins demonstrates decreased calsequestrin expression in dystrophic mouse skeletal muscle [J].

Doran, P ;

Dowling, P ;

Lohan, J ;

McDonnell, K ;

Poetsch, S ;

Ohlendieck, K .

EUROPEAN JOURNAL OF BIOCHEMISTRY, 2004, 271 (19) :3943-3952

[9] Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes [J].

Ducreux, S ;

Zorzato, F ;

Ferreiro, A ;

Jungbluth, H ;

Muntoni, F ;

Monnier, N ;

Müller, CR ;

Treves, S .

BIOCHEMICAL JOURNAL, 2006, 395 :259-266

[10] A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene [J].

Ferreiro, A ;

Monnier, N ;

Romero, NB ;

Leroy, JP ;

Bönnemann, C ;

Haenggeli, CA ;

Straub, V ;

Voss, WD ;

Nivoche, Y ;

Jungbluth, H ;

Lemainque, A ;

Voit, T ;

Lunardi, J ;

Fardeau, M ;

Guicheney, P .

ANNALS OF NEUROLOGY, 2002, 51 (06) :750-759

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