Delineating the genomic basis of neurodegeneration and mitochondrial disorders associated with defective DNA break repair
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 20
- 试验地点
- 1
- 主要终点
- We aim to gain insights into the impact of disturbed DNA replication and repair on mitochondrial DNA maintenance, which could inform the development of targeted interventions to mitigate the effects of these conditions.
研究概览
简要总结
In postmitotic tissues with high functioning and transcriptional activity, such as the brain and skeletal muscles, maintenance of mitochondrial DNA (mtDNA) is essential for energy production. On the other hand, little is known about how mitochondrial functions in people with neurological diseases are affected by deficiencies in DNA repair. Dysfunctions in DNA repair pathways have been linked to neurodegeneration, aging, and the ability to respond to treatment interventions such as radiation therapy and chemotherapy. The goal of the proposed program is to identify the genes that cause the mutations that affect mitochondrial function and are linked to the maintenance of mitochondrial DNA in a group of Indian patients who have cognitive and cerebral impairments. It is expected that the functional analysis of pathogenic mutations will aid in the creation of disease models, improving the accuracy of diagnosis and developing treatment plans specific to the Indian populace.
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 1.00 Month(s) 至 65.00 Year(s)（—）
- 性别
- All
入选标准
- •Individuals with clinical features, radiological findings, and biochemical analysis suggestive of a mitochondrial disorder using Mitochondrial Disease Criteria(Score more than 5).
- •Clinical presentation – Motor developmental delay, myopathy, dystonia, ataxia, seizures, exercise intolerance, spasticity, growth failure, hearing and vision impairment, cardiomyopathy, gastrointestinal issues.
排除标准
- •Individuals having a score of less than 5 utilizing mitochondrial disease criteria(MDC) regardless of age of onset or presentation.
- •Participate with non-genetic disorders, such as autoimmune or inflammatory infections, endocrine or hypoxic insults in the neonatal period, medications, or toxins exposure.
结局指标
主要结局
We aim to gain insights into the impact of disturbed DNA replication and repair on mitochondrial DNA maintenance, which could inform the development of targeted interventions to mitigate the effects of these conditions.
时间窗: We aim to gain insights into the impact of disturbed DNA replication and repair on mitochondrial DNA maintenance, which could inform the development of targeted interventions to mitigate the effects of these conditions:3 years.
次要结局
- Contribution to poor brain & cognitive phenotype in an Indian patient cohort.(Contribution to poor brain & cognitive phenotype in an Indian patient cohort:4years)
研究者
Dr Sanjiban Chakrabarty
Manipal School of Life Sciences