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

Histological examination of left biceps from the patient. A: H&E staining shows an RRF (arrow). B: MGT staining shows an atypical RRF (arrow). C: SDH staining shows ragged-blue fibers (arrows). Magnification 400×.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f1: Histological examination of left biceps from the patient. A: H&E staining shows an RRF (arrow). B: MGT staining shows an atypical RRF (arrow). C: SDH staining shows ragged-blue fibers (arrows). Magnification 400×.

Mentions: Other examinations included neurologic examinations, laboratory tests, and a skeletal muscle biopsy. The muscle strength of proximal extremities was normal (5/5), but was slightly weak at the distal end (4/5). The muscular tension of extremities was within normal limits and myotonia was absent. Deep reflexes and sensation were normal. Routine blood and urine tests were unremarkable. A magnetic resonance imaging (MRI) scan of the head showed no abnormality. The antinuclear antibody (ANA) was negative. An electromyologram (EMG) showed the right ulnar nerve has no abnormality in low and high frequency stimulation. Histological examinations showed ragged-red fibers (RRFs) and ragged-blue fibers (RBFs) on the patient’s muscle biopsy (Figure 1), consistent with the pathological features of mitochondrial myopathy.


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)

Histological examination of left biceps from the patient. A: H&E staining shows an RRF (arrow). B: MGT staining shows an atypical RRF (arrow). C: SDH staining shows ragged-blue fibers (arrows). Magnification 400×.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f1: Histological examination of left biceps from the patient. A: H&E staining shows an RRF (arrow). B: MGT staining shows an atypical RRF (arrow). C: SDH staining shows ragged-blue fibers (arrows). Magnification 400×.
Mentions: Other examinations included neurologic examinations, laboratory tests, and a skeletal muscle biopsy. The muscle strength of proximal extremities was normal (5/5), but was slightly weak at the distal end (4/5). The muscular tension of extremities was within normal limits and myotonia was absent. Deep reflexes and sensation were normal. Routine blood and urine tests were unremarkable. A magnetic resonance imaging (MRI) scan of the head showed no abnormality. The antinuclear antibody (ANA) was negative. An electromyologram (EMG) showed the right ulnar nerve has no abnormality in low and high frequency stimulation. Histological examinations showed ragged-red fibers (RRFs) and ragged-blue fibers (RBFs) on the patient’s muscle biopsy (Figure 1), consistent with the pathological features of mitochondrial myopathy.

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