Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Troponin T, slow skeletal muscle

The TNNT1 gene encodes a subunit of troponin. Mutations cause autosomal recessive Amish nemaline myopathy. Epigenetic modification of this gene was associated with dyslipidemia.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Nemaline myopathy 5
TNNT1
Epigenetic dyslipidemia
ABCG1
CPT1A
MIR33B
SREBF1
TNIP1
TNNT1

References:

1.

Trask B et al. (1993) Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA markers.

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2.

Braun KV et al. (2016) The role of DNA methylation in dyslipidaemia: A systematic review.

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3.

Samson F et al. (1992) Assignment of the human slow skeletal troponin T gene to 19q13.4 using somatic cell hybrids and fluorescence in situ hybridization analysis.

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4.

Novelli G et al. (1992) Assignment of the slow troponin T (TNNT1) gene to chromosome 19 using polymerase chain reaction.

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5.

Samson F et al. (1990) Isolation and localization of a slow troponin (TnT) gene on chromosome 19 by subtraction hybridization of a cDNA muscle library using myotonic dystrophy muscle cDNA.

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6.

Nadal-Ginard B et al. (1989) Molecular basis of cardiac performance. Plasticity of the myocardium generated through protein isoform switches.

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7.

Samson F et al. (1994) A new human slow skeletal troponin T (TnTs) mRNA isoform derived from alternative splicing of a single gene.

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8.

Barton PJ et al. (1999) Close physical linkage of human troponin genes: organization, sequence, and expression of the locus encoding cardiac troponin I and slow skeletal troponin T.

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9.

Johnston JJ et al. (2000) A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.

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10.

Jin JP et al. (2003) Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy.

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11.

Wang X et al. (2005) Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy.

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12.

Guay SP et al. (2014) Epipolymorphisms within lipoprotein genes contribute independently to plasma lipid levels in familial hypercholesterolemia.

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13.

Orphanet article

Orphanet ID 120188 [^]
14.

NCBI article

NCBI 7138 [^]
15.

OMIM.ORG article

Omim 191041 [^]
16.

Wikipedia article

Wikipedia EN (TNNT1) [^]
Update: April 29, 2019