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Biomedical subjects

Yu Ma

Publications and source records attributed to Yu Ma.

At least 19 recordsLinked to original sources

Efficient and precise programmable DNA knock-in without double-strand breaks.

Programmable gene knock-in holds substantial promise for treating genetic diseases and advancing cell therapies. However, achieving precise and efficient kilobase-scale DNA fragment integration remains challenging1,2. Here we report CRISPR kilobase-scale nickase-targeting (KNIT) editing for efficient, precise and programmable kilobase-scale DNA insertion without double-strand DNA cleavage, which is enabled through the coupling of a Cas9 nickase with a DNA donor recruiting system. KNIT editing facilitates programmable integration of DNA fragments from 0.7 kb to more than 10 kb and is effective across genomic loci and cell types. It achieves up to 89% efficiency and markedly reduces unintended insertion-deletion mutation (indels) rates, translocations and off-target editing. The system supports repeated insertion editing and multiloci gene knock-in with minimal translocations. Its enhanced version, KNIT editor 2, further improves efficiency via a single transfection. Moreover, in mutant cells with a pathological mutation, KNIT editing restores normal gene expression by inserting a therapeutic gene into a safe harbour locus or its native locus. Notably, KNIT editing enables non-viral and programmable chimeric antigen receptor T cell (CAR-T cell) engineering without double-strand breaks and with clinically relevant efficiencies. Moreover, the engineered CAR-T cells exhibit effective antitumour activity in vitro and in mouse models. Therefore, by achieving programmable and site-specific kilobase-scale DNA insertions without double-strand breaks while reducing unintended outcomes, KNIT editing provides a versatile platform for advancing personalized medicine.

Animals↗

Mitophagy-mediated ferroptosis involved in 2,5-hexanedione-induced neurotoxicity in rats.

n-Hexane, a widespread environmental and industrial pollutant, poses serious health risks, particularly neurotoxicity. Chronic exposure primarily induces sensorimotor neuropathy via its metabolite 2,5-hexanedione (HD), yet the mechanisms underlying HD-induced neuronal injury remain unclear. Recent evidence implicates ferroptosis, an iron-dependent form of regulated cell death, in neurodegenerative processes. In this study, Sprague-Dawley (SD) rats were exposed to HD to establish a neuropathy model. Ferroptosis involvement was assessed using the iron chelator deferoxamine (DFO) and the ferroptosis inhibitor Ferrostatin-1. The potential role of mitophagy in HD-induced ferroptosis was evaluated by monitoring mitophagy markers and by autophagy inhibition with chloroquine (CQ). In vitro, SH-SY5Y cells were transfected with PINK-1 siRNA to explore mitophagy-mediated regulation of ferroptosis. HD exposure led to iron accumulation, lipid peroxidation, mitochondrial abnormalities, and decreased GPX4 in rat spinal neurons. DFO or ferrostatin-1 treatment ameliorated these changes and preserved mitochondrial integrity. Mechanistic analyses revealed HD-induced activation of mitophagy, as shown by upregulation of Beclin-1, LC3II, Drp-1, and PINK-1, with concomitant downregulation of P62 in spinal mitochondria. CQ suppressed mitophagy, reduced iron deposition and lipid peroxidation, and improved motor function. Similarly, PINK-1 knockdown in SH-SY5Y cells mitigated HD-induced mitophagy and ferroptosis. These findings demonstrate that HD induces neuronal ferroptosis via mitophagy activation. Inhibition of ferroptosis or mitophagy effectively attenuates HD-induced neurotoxicity, suggesting potential therapeutic strategies to reduce neural damage from environmental n-hexane exposure.

Animals↗

LINC00887 promotes GCN5-dependent H3K27cr level and CRC metastasis via recruitment of YEATS2 and enhancing ETS1 expression.

Recent observations have revealed upregulation of H3K27cr in colorectal cancer (CRC) tissues; however, the underlying cause remains elusive. This study aimed to investigate the mechanism of H3K27cr upregulation and its roles in CRC metastasis. Clinically, our findings showed that H3K27cr served as a highly accurate diagnostic marker to distinguish CRC tissues from healthy controls. Elevated levels of LINC00887 and H3K27cr were associated with a poorer prognosis in CRC patients. Functionally, LINC00887 and H3K27cr facilitated the migration and invasion of CRC cells. Mechanistically, LINC00887 interacted with SIRT3 protein. Overexpressed of LINC00887 obstructed the enrichment of SIRT3 within GCN5 promoter, thereby elevating H3K27ac but not H3K27cr level within this region, subsequently activating GCN5 expression. This activation increased the global level of H3K27cr, promoting the enrichment of GCN5, H3K27cr, and YEATS2 within ETS1 promoter, activating ETS1 transcription and ultimately promoting the metastasis of CRC. The in vivo study demonstrated that inhibition of LINC00887 suppressed CRC metastasis, but this inhibitory effect was nullified when mice were treated with NaCr. In conclusion, our results confirmed the diagnostic biomarker potential of H3K27cr in individuals with CRC, and proposed a functional model to elucidate the involvement of LINC00887 in promoting CRC metastasis by elevating H3K27cr level.

Humans↗

Deep brain stimulation in the treatment of secondary dystonia.

BACKGROUND: Dystonia is one of the most challenging movement disorders to treat. Medications and surgeries are the two methods to control dystonic symptoms. For patients with dystonia in whom symptoms are inadequately controlled with pharmacologic measures, the use of deep brain stimulation (DBS) can improve symptoms and enhance functional capacity. The best candidate for DBS is believed to be primary generalized dystonia, especially the DYT-1 type. Here, we report 9 cases of secondary dystonia to explore the feasibility, indications and complications of DBS in the treatment of secondary dystonia. METHODS: From July 2003 to June 2006, nine patients with secondary dystonia underwent surgery at Beijing Tiantan Hospital. Among them, 2 were diagnosed as having tardive dystonia, 1 had posttraumatic dystonia, 3 had a history of perinatal anoxia, 1 had neonatal pathologic jaundice, and 2 had no exact contributory history; MRI showed bilateral lentiform nuclei degeneration in one patient. Six patients underwent bilateral subthalamic nucleus (STN)-DBS, two underwent unilateral STN-DBS, the other underwent left STN and right globus pallidus internus (GPi)-DBS. RESULTS: With intraoperative microelectrode recording, the targeted nucleus was accurately localized. Tentative stimulation could decrease muscle tension to the same extent, but twisting was not obviously improved. Follow-up for 3 months to 3 years showed satisfactory results in 3 patients with tardive dystonia and posttraumatic dystonia and that Burke-Fahn-Marsden Dystonia Scale (BFMS) decreased by more than 90%. The improvement of symptoms was progressive along with time. The other 6 patients had slight to moderate improvement. None of them had severe surgery-related complications. One had lead fracture 16 months after surgery and the lead was then evacuated. CONCLUSIONS: DBS could be an ideal treatment for patients with tardive and posttraumatic dystonia. For patients with perinatal anoxia and diffuse impairment in the basal ganglia, DBS seemed not to be a good choice. STN could be an ideal target. Intraoperative microelectrode recording and mild amelioration of muscle tension are indicators of correct target location. No severe complications occurred.

Adolescent↗

Confined crystallization of cylindrical diblock copolymers studied by dynamic Monte Carlo simulations.

We report dynamic Monte Carlo simulations of polymer crystallization confined in the cylindrical microdomains of diblock copolymers. The microdomains were prepared via spontaneous microphase separation from homogeneous melt, and the major component was then frozen in a vitreous amorphous state to make a hard confinement to the crystallization of the minor component. We found that during the isothermal crystallization at high temperatures, crystal orientations are dominantly perpendicular to the cylinder axis at the early stage of crystal nucleation and remain to the final state; while if the block junctions are broken before crystallization, crystal orientations are dominantly parallel at the early stage of crystal nucleation, and eventually other orientations take the place of parallel preferences. Analysis of bond orientations in the heterogeneous melts demonstrates the microscopic origin of oriented crystal nucleation.

Journal Article↗

Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population.

BACKGROUND: C6orf37 was a gene up-regulated in colorectal adenoma in our previous study. A variable region of C6orf37 sequence was found when we blasted its full sequence with NCBI nucleotide database. METHODS: RT-PCR and sequencing were conducted to identify the variable region of C6orf37 as VNTR. DHPLC was applied to detect the VNTR genotypes in 122 colorectal carcinoma patients and 166 healthy controls. RESULTS: A novel VNTR sequence found in C6orf37 second exon was composed of 15 base pair consensus sequence encoding 5-amino-acid (G-G-D-F-G). The repeat timePOST alleles contain three repeats (a), 4 repeats (b) and 5 repeats (c), respectively, which produced 3 homozygotes (a/a, b/b and c/c) and 3 heterozygotes (a/b, a/c and b/c). a, b, c allele frequencies were 0.145, 0.304, 0.551, respectively in Chinese population. Heterozygosity (H) was 0.583. Polymorphism information content (PIC) was 0.510. The distribution of genotypes and allele frequencies of the VNTR reached no significant difference between patients and healthy controls and there was no correlation between VNTR polymorphism and colorectal cancer clincopathological features. CONCLUSION: A novel VNTR polymorphism in C6orf37 exists in Chinese population and is not associated with colorectal cancer risk.

Adult↗

IGFBP7 plays a potential tumor suppressor role against colorectal carcinogenesis with its expression associated with DNA hypomethylation of exon 1.

Insulin-like growth factor binding-protein-7 (IGFBP7) was obtained from our previous colonic adenocarcinoma (CRC) and normal mucosa suppression subtraction hybridization (SSH) cDNA libraries. By RT-PCR and immunohistochemistry, we found that IGFBP7 was overexpressed in CRC tissue compared to normal tissue. However, our in vitro experiments performed in 10 CRC cell lines showed that IGFBP7 expressed only in SW480 and Caco2 cell lines, which implied an underlying reversible regulatory mechanism. Using methylation-specific PCR (MSP) and bisulfite sodium PCR (BSP), we found that its expression was associated with DNA hypomethylation of exon1. This was further supported by the in vitro study which showed restored IGFBP7 expression after demethylation agent 5-aza-2'-deoxycytidine treatment. Correlation analysis between IGFBP7 expression and prognosis indicated that overexpression of IGFBP7 in CRC tissue correlated with favourable survival. Investigation of the functional role of IGFBP7 through transfection studies showed that IGFBP7 protein could inhibit growth rate, decrease colony formation activity, and induce apoptosis in RKO and SW620 cells, suggesting it a potential tumor suppressor protein in colorectal carcinogenesis. In conclusion, our study clearly demonstrated that IGFBP7 plays a potential tumor suppressor role against colorectal carcinogenesis and its expression is associated with DNA hypomethylation of exon 1.

Adenocarcinoma↗

[VNTR polymorphism of C6orf37 in Chinese population].

OBJECTIVE: To identify a novel VNTR in C6orf37 and to detect the C6orf37 VNTR polymorphism distribution in Chinese population. METHODS: RT-PCR and sequencing were conducted to identify VNTR alleles in the variable region of C6orf37.SSLP and DHPLC were applied in detecting the VNTR genotypes in 166 Chinese individuals. RESULT: A novel VNTR sequence was found in the second exon of C6orf37, which was composed of 15 base pairs encoding 5-amino-acid (G-G-D-F-G). The repeat times ranged from 3 to 5. There were three common alleles containing three repeats (a), four repeats (b) and five repeats (c), respectively, which produced three homozygotes (a/a, b/b and c/c) and three heterozygotes (a/b, a/c and b/c). The frequency of a, b, c alleles were 0.145, 0.304, 0.551, respectively in Chinese population. Heterozygosity (H) was 0.583. Polymorphism information content (PIC) was 0.510. The screened result of DHPLC was consistent with that of SSLP. CONCLUSION: A novel highly polymorphic VNTR in C6orf37 exists in Chinese population. DHPLC is the most efficient technique for screening VNTR polymorphism.

Asian People↗

[Disparity of asthma prevalence in Chinese schoolchildren is due to differences in lifestyle factors].

OBJECTIVE: To investigate the environmental lifestyle risk factors which may explain the disparity of asthma prevalence in the Chinese population. METHODS: In a cross-sectional study, 10 902 schoolchildren were recruited from Hong Kong (n = 3110), Beijing (n = 4277), and Guangzhou (n = 3565) using the ISAAC Phase II protocol. The average age of the children among three cities was 10.1-10.4 years and 50%-53% were male. Each subject was given an ISAAC Phase II questionnaire to be completed by the parents or guardians. Random subgroups of at least 1000 children from each city, added up to 3479 children underwent skin-prick testing. The sensitivity to eight common aeroallergens was assessed. Logistic regression analysis was used to determine the environmental and lifestyle risk factors for asthma and atopy. RESULTS: The prevalence of wheezing in the past 12 months (Hong Kong, 5.8%; Beijing, 3.8%; Guangzhou, 3.4%) was significantly higher in schoolchildren from Hong Kong than that from the Mainland of China (OR 1.64, 95% CI 1.35-1.99). Multivariate logistic regression analyses revealed that the use of gas cooking (OR 2.08, 95% CI 1.32-3.26), foam pillow (OR 1.94, 95% CI 1.19-3.16), and house dampness (OR 1.84, 95% CI 1.25-2.71) were significant risk factors for "current wheezing". The use of cotton quilt (OR 0.70, 95% CI 0.56-0.87), breast-feeding (OR 0.79, 95% CI 0.66-0.96), and attendance of daycare (OR 0.73, 95% CI 0.59-0.88) were protective factors against "current wheezing". When a summary measure of these variables was introduced into a regression model, the Mainland residency was no longer associated with "current asthma" or "current wheezing" suggesting that either these factors or other unmeasured factors associated with above factors are responsible for the lower prevalence of asthma in the Mainland of China. CONCLUSION: Several environmental and lifestyle factors represented characteristic of life in Mainland of China, including breast feeding, attendance of daycare, use of cotton quilt, use of pillow other than foam pillow, use of cooking fuel other than gas, and the absence of damp spots on the walls or ceiling, were the significant risk factors contributed to the disparity of asthma prevalence in children from Hong Kong and the Mainland of China.

Asthma↗

[Multiresidue determination of organophosphorus pesticide residues in vegetables and fruit by gas chromatography-negative ion chemical ionization-mass spectrometry].

An analytical method of gas chromatography coupled with negative ion chemical ionization-mass spectrometry for simultaneous determination of nine organophosphorus pesticide residues in vegetables and fruit has been developed, and the negative ions structure and partition mechanism of the nine organophosphorus pesticides were interpreted. Meanwhile, the matrix effect for sample analysis was discussed, and matrix-matched calibration for quantification was introduced to reduce the matrix effect in this method. Pesticides were extracted from sample with ethyl acetate in an ultrasonic bath, then determined by gas chromatography-mass spectrometry operated in negative chemical ionization mode and quantified in selective ion monitoring mode, and ethion was used as an internal standard. The detection limits of the method were 0.12-1.0 microg/kg for the nine organophosphorus pesticides, and the relative coefficients were higher than 0.9993. A blank sample (tomato) was spiked at 100, 400, 800 microg/kg for each pesticide, and the recoveries were determined to be from 78% to 126% with relative standard deviations from 0.58% to 14.7% for the pesticides.

Agriculture↗

[Determination of multiple pesticide residues in honey using gas chromatography-mass spectrometry].

An analytical method was developed for the simultaneous determination of 23 pesticide residues in various commercial honeys. Meanwhile, the characteristic ions and fragmentation mechanism of three pesticides in the process of electron ionization mass spectrometry (EI/MS) were evaluated. After the optimization of different parameters such as the extraction solvent, pesticides were extracted from honey with ethyl acetate in an ultrasonic bath, cleaned up on a Florisil column by an elution of mixture of hexane and ethyl acetate (7:3, v/v), and analyzed by gas chromatography-electron ionization mass spectrometry (GC-EI/MS) in the selected ion monitoring mode (SIM) with PCB103 as internal standard. Recovery studies were performed at 50, 100 and 200 microg/kg fortification levels for each pesticide, and the recoveries ranged from 82% to 120% with relative st0ndard deviations between 1.8% and 11.0% for different pesticides. The limit of detection was less than 10.0 microg/kg for all the pesticides. The developed method was linear in the range of 10-500 microg/kg, with correlation coefficients larger than 0.995. Finally, the developed analytical method has been successfully applied to the determination of pesticide residues in several honey samples.

Gas Chromatography-Mass Spectrometry↗

DHPLC analysis of the matrix metalloproteinase-1 promoter 1G/2G polymorphism that can be easily used to screen large population.

Matrix metalloproteinase-1 has been shown to play an important role in all stages of cancer initiation, invasion, and metastasis. The 1G/2G single nucleotide polymorphism (SNP) at -1607 to -1608 creates an Ets binding site and elevates the rate of transcription. Moreover, the presence of the 2G allele in the MMP-1 promoter has been reported to be associated with the development and/or progression of carcinomas of the ovary, endometrium, lung, and colorectum. However, further studies on a wide variety of cancers in various sufficiently large populations will be required to verify that 2G is risk factor for cancers. A major challenge confronting such studies is the need to develop accurate, fast and inexpensive high-throughput genotyping techniques. To set up a fast and sensitive test for MMP-1 1G/2G genotyping, we analyzed 126 healthy persons by denaturing high performance liquid chromatography (DHPLC). The genotypes of MMP-1 1G/2G revealed by DHPLC analysis were further confirmed by DNA sequencing. In conclusion, DHPLC is a cost-effective, rapid, sensitive, and high-throughput technique for MMP-1 1G/2G genotyping.

Alleles↗

PLATCOM: a Platform for Computational Comparative Genomics.

MOTIVATION: As more whole genome sequences become available, comparing multiple genomes at the sequence level can provide insight into new biological discovery. However, there are significant challenges for genome comparison. The challenge includes requirement for computational resources owing to the large volume of genome data. More importantly, since the choice of genomes to be compared is entirely subjective, there are too many choices for genome comparison. For these reasons, there is pressing need for bioinformatics systems for comparing multiple genomes where users can choose genomes to be compared freely. RESULTS: PLATCOM (Platform for Computational Comparative Genomics) is an integrated system for the comparative analysis of multiple genomes. The system is built on several public databases and a suite of genome analysis applications are provided as exemplary genome data mining tools over these internal databases. Researchers are able to visually investigate genomic sequence similarities, conserved gene neighborhoods, conserved metabolic pathways and putative gene fusion events among a set of selected multiple genomes. AVAILABILITY: http://platcom.informatics.indiana.edu/platcom

Chromosome Mapping↗

Chaperone-like activity of Mycobacterium tuberculosis Hsp16.3 does not require its intact (native) structures.

Small heat shock proteins (sHsps) were found to exhibit efficient chaperone-like activities under stress conditions although their native structures are severely disturbed. Here, using an alternative approach (site-directed mutagenesis), we obtained two structurally and functionally distinct Mycobacterium tuberculosis Hsp16.3 single-site mutant proteins. The G59W mutant protein (with Gly59 substituted by Trp) is capable of exhibiting efficient chaperone-like activity even under non-stress conditions although its secondary, tertiary, and quaternary structures are very different from that of the wild type protein. By contrast, the G59A mutant protein (with Gly59 substituted by Ala) resembles with the wild type protein in structure and function. These observations suggest that the Gly59 of the Hsp16.3 protein is critical for its folding and assembly. In particular, we propose that the exhibition of chaperone-like activity for Hsp16.3 does not require its intact (native) structures but requires the disturbance of its native structures (i.e., the native structure-disturbed Hsp16.3 retains its chaperone-like activity or even becomes more active). In addition, the behavior of such an active mutant protein (G59W) also strongly supports our previous suggestion that Hsp16.3 exhibits chaperone-like activity via oligomeric dissociation.

Amino Acid Sequence↗

Potential value of high-dose mizoribine as rescue therapy for ongoing acute humoral rejection.

Mizoribine (MZ) inhibits the proliferation of lymphocytes selectively via inhibition of inosine monophosphate dehydrogenase, like mycophenolate mofetil (MMF). The clinical dosage of MZ (2-5 mg/kg) is much lower than that of MMF (20-60 mg/kg). The purpose of this study was to examine whether high-dose MZ would be effective for treatment of acute humoral rejection. Renal transplantation was performed in a different pig strain combination. Group 1 (n = 2) received no treatment. Group 2 (n = 4) received cyclosporine microemulsion (6 mg/kg) and prednisolone (0.1 mg/kg) as baseline immunosuppression. Groups 3 (n = 4), 4 (n = 4) and 5 (n = 4) were additionally treated with MZ for rescue therapy, 30, 10 and 3 mg/kg, respectively, immediately after rejection was observed. All pigs developed acute vascular rejection between days 4 and 8. Complete reversal of acute rejection including reduction of elevated serum creatinine, suppression of anti-donor antibody production and pathological finding, was obtained in 3/4 (group 3), 1/4 (group 4) and 0/4 (group 5). Rescue with high-dose MZ (30 mg/kg) reversed ongoing acute humoral rejection. Such a high dose of MZ was tolerable for pigs. However, leukocytopenia was observed when MZ trough level was maintained over 10 mug/ml. Treatment with high-dose MZ would be applicable to a clinical trial, if blood level is carefully monitored.

Acute Disease↗

[Characterization of the katG, inhA, ahpC, kasA, and oxyR gene mutations in isoniazid-resistant and susceptible strain of Mycobacterium tuberculosis by automated DNA sequencing].

OBJECTIVE: To study the characteristics of katG, inhA, ahpC, kasA, and oxyR gene mutations in isoniazid-resistant clinical isolates of Mycobacterium tuberculosis. METHODS: A total of 101 isoniazid-resistant and 43 susceptible strains of Mycobacterium tuberculosis were analyzed by PCR and sequence analysis of their katG, inhA, ahpC, kasA, and oxyR genes. RESULTS: (1) Sequencing of katG from 101 INH-resistant strains showed point mutations, small deletions or insertions in 81 isolates (80.2%), but no complete deletions were identified. The mutations at 16 position were found for the first time. Point mutations at position 315 were found in the genomes of 38.6% (39/101) of isoniazid-resistant strains. Low level isoniazid resistant strains (1 microg/ml) had higher mutation frequency at 315-Ser than high level isoniazid resistant strains (10 microg/ml; chi(2) = 9.31, P < 0.05). Mutations at position 463 were detected in 58 (57.4%) isoniazid-resistant strains. Arg463leu was also present in 23 of 43 susceptible strains. (2) Mutations in inhA genes were identified in 5 isoniazid-resistant isolates (4.9%). None of the susceptible strains contained any mutation in inhA genes. (3) Only 3 isolates in the 101 (2.97%) isoniazid-resistant clinical isolates had mutations in ahpC genes. No mutations were identified in the ahpC genes in 43 isoniazid-susceptible isolates. (4) Mutations in kasA genes were present in 17 of 101 (16.8%) isoniazid-resistant isolates. However, G312S was also present in 3 of 43 susceptible strains. (5) None of the isoniazid-resistant strains and susceptible isolates contained oxyR gene mutation. (6) Taken together, 91 of 101 (90%) isoniazid-resistant strains had mutations in katG, inhA, ahpC, and kasA genes which were associated with drug resistance. CONCLUSION: These studies provide further evidence supporting the association between katG, inhA, ahpC, and kasA gene mutations and INH resistance in Mycobacterium tuberculosis, while other mechanisms of INH resistant may exist.

Antitubercular Agents↗