Limits...
A novel mitochondrial tRNA(Val) T1658C mutation identified in a CPEO family.

Yan N, Cai S, Guo B, Mou Y, Zhu J, Chen J, Zhang T, Li R, Liu X - Mol. Vis. (2010)

Bottom Line: The products were sequenced and compared with reference databases.A novel T1658C mutation and a known A10006G mutation were identified in the mitochondrial tRNA(Val) gene and the tRNA(Gly) gene, respectively, in the patient, her mother, and younger sister.The T1658C mutation changes the T loop structure of mitochondrial tRNA(Val) and the A10006G mutation disturbs the D loop of mitochondrial tRNA(Gly).

View Article: PubMed Central - PubMed

Affiliation: Ophthalmic Laboratories and Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan, PR China.

ABSTRACT

Purpose: To analyze mitochondrial DNA (mt DNA) gene mutations in a 19-year-old female patient, who presented with chronic progressive external ophthalmoplegia (CPEO), together with her mother and younger sister.

Methods: The diagnosis of mitochondrial myopathy was made based on clinical and biologic analysis. Histochemical methods were used to detect ragged-red fibers (RRFs) and ragged-blue fibers (RBFs) on a muscle biopsy of the patient. All mitochondrial gene DNA fragments of the patient, her mother, and younger sister were amplified by polymerase chain reaction. The products were sequenced and compared with reference databases.

Results: A novel T1658C mutation and a known A10006G mutation were identified in the mitochondrial tRNA(Val) gene and the tRNA(Gly) gene, respectively, in the patient, her mother, and younger sister. The T1658C mutation changes the T loop structure of mitochondrial tRNA(Val) and the A10006G mutation disturbs the D loop of mitochondrial tRNA(Gly).

Conclusions: The T1658C and A10006G mutations of mtDNA may be responsible for the pathogenesis of the patient with CPEO.

Show MeSH

Related in: MedlinePlus

Mutation positions located at mt tRNAs in this patient. A: tRNAVal, B: tRNAGly. *show the mutations in tRNAVal (position 57) and tRNAGly (position 16).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC2927373&req=5

f3: Mutation positions located at mt tRNAs in this patient. A: tRNAVal, B: tRNAGly. *show the mutations in tRNAVal (position 57) and tRNAGly (position 16).

Mentions: To determine the role of mitochondrial abnormalities in the pathogenesis of this patient with CPEO, the 24 PCR fragments spanning the entire mitochondrial genome of the affected individual, her mother, and younger sister were analyzed by direct sequencing. The comparison of the resultant sequences with the Revised Cambridge Reference Sequence [5] revealed several nucleotide changes, as shown in Table 2, Figure 2, and Figure 3. The patient’s mitochondrial sequence results are identical to those of her mother and sister, except the T1658C mutation of the patient’s young sister is T/C heterozygous in the mitochondrial tRNAVal gene. There were no T1658C or A10006G mutations in the148 control subjects.


A novel mitochondrial tRNA(Val) T1658C mutation identified in a CPEO family.

Yan N, Cai S, Guo B, Mou Y, Zhu J, Chen J, Zhang T, Li R, Liu X - Mol. Vis. (2010)

Mutation positions located at mt tRNAs in this patient. A: tRNAVal, B: tRNAGly. *show the mutations in tRNAVal (position 57) and tRNAGly (position 16).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2927373&req=5

f3: Mutation positions located at mt tRNAs in this patient. A: tRNAVal, B: tRNAGly. *show the mutations in tRNAVal (position 57) and tRNAGly (position 16).
Mentions: To determine the role of mitochondrial abnormalities in the pathogenesis of this patient with CPEO, the 24 PCR fragments spanning the entire mitochondrial genome of the affected individual, her mother, and younger sister were analyzed by direct sequencing. The comparison of the resultant sequences with the Revised Cambridge Reference Sequence [5] revealed several nucleotide changes, as shown in Table 2, Figure 2, and Figure 3. The patient’s mitochondrial sequence results are identical to those of her mother and sister, except the T1658C mutation of the patient’s young sister is T/C heterozygous in the mitochondrial tRNAVal gene. There were no T1658C or A10006G mutations in the148 control subjects.

Bottom Line: The products were sequenced and compared with reference databases.A novel T1658C mutation and a known A10006G mutation were identified in the mitochondrial tRNA(Val) gene and the tRNA(Gly) gene, respectively, in the patient, her mother, and younger sister.The T1658C mutation changes the T loop structure of mitochondrial tRNA(Val) and the A10006G mutation disturbs the D loop of mitochondrial tRNA(Gly).

View Article: PubMed Central - PubMed

Affiliation: Ophthalmic Laboratories and Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan, PR China.

ABSTRACT

Purpose: To analyze mitochondrial DNA (mt DNA) gene mutations in a 19-year-old female patient, who presented with chronic progressive external ophthalmoplegia (CPEO), together with her mother and younger sister.

Methods: The diagnosis of mitochondrial myopathy was made based on clinical and biologic analysis. Histochemical methods were used to detect ragged-red fibers (RRFs) and ragged-blue fibers (RBFs) on a muscle biopsy of the patient. All mitochondrial gene DNA fragments of the patient, her mother, and younger sister were amplified by polymerase chain reaction. The products were sequenced and compared with reference databases.

Results: A novel T1658C mutation and a known A10006G mutation were identified in the mitochondrial tRNA(Val) gene and the tRNA(Gly) gene, respectively, in the patient, her mother, and younger sister. The T1658C mutation changes the T loop structure of mitochondrial tRNA(Val) and the A10006G mutation disturbs the D loop of mitochondrial tRNA(Gly).

Conclusions: The T1658C and A10006G mutations of mtDNA may be responsible for the pathogenesis of the patient with CPEO.

Show MeSH
Related in: MedlinePlus