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Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China.

Wang C, Chen Z, Yang F, Jiao B, Peng H, Shi Y, Wang Y, Huang F, Wang J, Shen L, Xia K, Tang B, Ashizawa T, Jiang H - PLoS ONE (2015)

Bottom Line: Neurodegenerative disorders are a heterogeneous group of chronic progressive diseases and have pathological mechanisms in common.In our study, there were no pathogenic repeats (>30 repeats) detected in either the patients or controls.The presence of the intermediate allele of the GGGGCC repeats in the patients decreased the age at onset by nearly 3 years.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China.

ABSTRACT
Neurodegenerative disorders are a heterogeneous group of chronic progressive diseases and have pathological mechanisms in common. A certain causative gene identified for a particular disease may be found to play roles in more than one neurodegenerative disorder. We analyzed the GGGGCC repeat expansions of C9orf72 gene in patients with SCA3/MJD from mainland China to determine whether the C9orf72 gene plays a role in the pathogenesis of SCA3/MJD. In our study, there were no pathogenic repeats (>30 repeats) detected in either the patients or controls. SCA3/MJD patients with intermediate/intermediate or short/intermediate genotype (short: <7 repeats; intermediate: 7-30 repeats) of the GGGGCC repeats had an earlier onset compared with those with short/short genotype. The presence of the intermediate allele of the GGGGCC repeats in the patients decreased the age at onset by nearly 3 years. Our study firstly demonstrate that the development of SCA3/MJD may involve some physiological functions of the C9orf72 gene and provide new evidence to the hypothesis that a specific mutation identified in one of the neurodegenerative disorders may be a modulator in this class of diseases.

No MeSH data available.


Related in: MedlinePlus

Distribution of the GGGGCC repeats size in SCA3/MJD patients and controls.There was no significant difference in the distribution of the GGGGCC repeats length between SCA3/MJD patients and controls.
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pone.0130336.g001: Distribution of the GGGGCC repeats size in SCA3/MJD patients and controls.There was no significant difference in the distribution of the GGGGCC repeats length between SCA3/MJD patients and controls.

Mentions: Table 1 presents the demographic information for this study. The accurate numbers of CAG repeats in the SCA3/MJD patients ranged from 64 to 84, as determined by the direct sequencing of recombinant DNA. No pathological repeat expansions of the C9orf72 gene was detected in any of the individuals. The range of the repeat expansions in the SCA3/MJD patients was 2–18 units, and the most frequent number of repeats in all of the subjects was 2, followed by 6, 7, and 8 (S1 File). There was a difference when compared with that of Europe [21], where the most frequent repeats in Europe was 2 units, followed by 5 and 8. No significant difference was found in the distribution of repeats numbers in an individual’s larger allele between SCA3/MJD patients and normal controls (Fig 1 and Fig 2; more details in S1 File). We found that 142 of the 314 healthy controls (45.22%) harbored the intermediate sized C9orf72 allele (range, 7–29), whereas 67 of the 127 patients with SCA3/MJD (52.76%) also harbored the intermediate-sized allele; this difference is not statistically significant.


Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China.

Wang C, Chen Z, Yang F, Jiao B, Peng H, Shi Y, Wang Y, Huang F, Wang J, Shen L, Xia K, Tang B, Ashizawa T, Jiang H - PLoS ONE (2015)

Distribution of the GGGGCC repeats size in SCA3/MJD patients and controls.There was no significant difference in the distribution of the GGGGCC repeats length between SCA3/MJD patients and controls.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4470924&req=5

pone.0130336.g001: Distribution of the GGGGCC repeats size in SCA3/MJD patients and controls.There was no significant difference in the distribution of the GGGGCC repeats length between SCA3/MJD patients and controls.
Mentions: Table 1 presents the demographic information for this study. The accurate numbers of CAG repeats in the SCA3/MJD patients ranged from 64 to 84, as determined by the direct sequencing of recombinant DNA. No pathological repeat expansions of the C9orf72 gene was detected in any of the individuals. The range of the repeat expansions in the SCA3/MJD patients was 2–18 units, and the most frequent number of repeats in all of the subjects was 2, followed by 6, 7, and 8 (S1 File). There was a difference when compared with that of Europe [21], where the most frequent repeats in Europe was 2 units, followed by 5 and 8. No significant difference was found in the distribution of repeats numbers in an individual’s larger allele between SCA3/MJD patients and normal controls (Fig 1 and Fig 2; more details in S1 File). We found that 142 of the 314 healthy controls (45.22%) harbored the intermediate sized C9orf72 allele (range, 7–29), whereas 67 of the 127 patients with SCA3/MJD (52.76%) also harbored the intermediate-sized allele; this difference is not statistically significant.

Bottom Line: Neurodegenerative disorders are a heterogeneous group of chronic progressive diseases and have pathological mechanisms in common.In our study, there were no pathogenic repeats (>30 repeats) detected in either the patients or controls.The presence of the intermediate allele of the GGGGCC repeats in the patients decreased the age at onset by nearly 3 years.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China.

ABSTRACT
Neurodegenerative disorders are a heterogeneous group of chronic progressive diseases and have pathological mechanisms in common. A certain causative gene identified for a particular disease may be found to play roles in more than one neurodegenerative disorder. We analyzed the GGGGCC repeat expansions of C9orf72 gene in patients with SCA3/MJD from mainland China to determine whether the C9orf72 gene plays a role in the pathogenesis of SCA3/MJD. In our study, there were no pathogenic repeats (>30 repeats) detected in either the patients or controls. SCA3/MJD patients with intermediate/intermediate or short/intermediate genotype (short: <7 repeats; intermediate: 7-30 repeats) of the GGGGCC repeats had an earlier onset compared with those with short/short genotype. The presence of the intermediate allele of the GGGGCC repeats in the patients decreased the age at onset by nearly 3 years. Our study firstly demonstrate that the development of SCA3/MJD may involve some physiological functions of the C9orf72 gene and provide new evidence to the hypothesis that a specific mutation identified in one of the neurodegenerative disorders may be a modulator in this class of diseases.

No MeSH data available.


Related in: MedlinePlus