Novel Point Mutations and A8027G Polymorphism in Mitochondrial-DNA-Encoded Cytochrome c Oxidase II Gene in Mexican Patients with Probable Alzheimer Disease

Loera‐Castañeda, Verónica; Sandoval-Ramírez, Lucila; Moisés, Fermín Paul Pacheco; Macías-Islas, Miguel Ángel; Jiménez, M.; González-Renovato, Erika Daniela; Cortés-Enríquez, Fernando; Rosa, Alfredo Celis de la; Velázquez-Brizuela, Irma E.; Ortíz, Genaro Gabriel

doi:10.1155/2014/794530

Cited by 4 publications

(3 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Neurofilament medium polypeptide is one of three plasma proteins strongly associated with ALS (Haggmark et al ., 2014). Cytochrome c oxidase mutations and polymorphisms are associated with multiple neurodegenerative diseases, including AD (Loera‐Castaneda et al ., 2014). …”

Section: Discussionmentioning

confidence: 99%

Proteins that mediate protein aggregation and cytotoxicity distinguish Alzheimer's hippocampus from normal controls

et al. 2016

View full text Add to dashboard Cite

SummaryNeurodegenerative diseases are distinguished by characteristic protein aggregates initiated by disease‐specific ‘seed’ proteins; however, roles of other co‐aggregated proteins remain largely unexplored. Compact hippocampal aggregates were purified from Alzheimer's and control‐subject pools using magnetic‐bead immunoaffinity pulldowns. Their components were fractionated by electrophoretic mobility and analyzed by high‐resolution proteomics. Although total detergent‐insoluble aggregates from Alzheimer's and controls had similar protein content, within the fractions isolated by tau or Aβ1–42 pulldown, the protein constituents of Alzheimer‐derived aggregates were more abundant, diverse, and post‐translationally modified than those from controls. Tau‐ and Aβ‐containing aggregates were distinguished by multiple components, and yet shared >90% of their protein constituents, implying similar accretion mechanisms. Alzheimer‐specific protein enrichment in tau‐containing aggregates was corroborated for individuals by three analyses. Five proteins inferred to co‐aggregate with tau were confirmed by precise in situ methods, including proximity ligation amplification that requires co‐localization within 40 nm. Nematode orthologs of 21 proteins, which showed Alzheimer‐specific enrichment in tau‐containing aggregates, were assessed for aggregation‐promoting roles in C. elegans by RNA‐interference ‘knockdown’. Fifteen knockdowns (71%) rescued paralysis of worms expressing muscle Aβ, and 12 (57%) rescued chemotaxis disrupted by neuronal Aβ expression. Proteins identified in compact human aggregates, bound by antibody to total tau, were thus shown to play causal roles in aggregation based on nematode models triggered by Aβ1–42. These observations imply shared mechanisms driving both types of aggregation, and/or aggregate‐mediated cross‐talk between tau and Aβ. Knowledge of protein components that promote protein accrual in diverse aggregate types implicates common mechanisms and identifies novel targets for drug intervention.

show abstract

Section: Discussionmentioning

confidence: 99%

Proteins that mediate protein aggregation and cytotoxicity distinguish Alzheimer's hippocampus from normal controls

et al. 2016

View full text Add to dashboard Cite

show abstract

“…Three of the identified cases had family history and late onset of AD, but one was diagnosed as early onset AD (50 years old). Four additional mutations in MTCO II were found (G7603A, A8003C, T8082C, C8301T), all of them in early onset AD cases, ranging from 44 to 57 years of age at the time of diagnosis [82]. Although MTCO II represents a new gene associated with familial AD, the role that this mitochondrial gene plays in the etiology of AD remains to be demonstrated.…”

Section: Epidemiology Of Ad In the Latino Populationmentioning

confidence: 99%

Alzheimer’s Disease in the Latino Community: Intersection of Genetics and Social Determinants of Health

Vega

Cabrera

Wygant

et al. 2017

JAD

View full text Add to dashboard Cite

Alzheimer’s disease (AD) is the most common type of dementia among individuals 65 or older. There are more than 5 million diagnosed cases in the US alone and this number is expected to triple by 2050. Therefore, AD has reached epidemic proportions with significant socioeconomic implications. While aging in general is the greatest risk factor for AD, several additional demographic factors that have contributed to the rise in AD in the US are under study. One such factor is associated with the relatively fast growth of the Latino population. Several reports indicate that AD is more prevalent among blacks and Latinos. However, the reason for AD disparity among different ethnic groups is still poorly understood and highly controversial. The Latino population is composed of different groups based on nationality, namely South and Central America, Mexico, and Caribbean Hispanics. This diversity among the Latino population represents an additional challenge since there are distinct characteristics associated with AD and comorbidities. In this review, we aim to bring attention to the intersection between social determinants of health and genetic factors associated with AD within the Latino community. We argue that understanding the interplay between identified social determinants of health, co-morbidities, and genetic factors could lead to community empowerment and inclusiveness in research and healthcare services, contributing to improved diagnosis and treatment of AD patients. Lastly, we propose that inserting a neuroethics perspective could help understand key challenges that influence healthcare disparities and contribute to increased risk of AD among Latinos.

show abstract

“…Three of the eight patients (37.5%) showed nucleotide variation and were diagnosed with LOAD. While, five of the eight patients (62.5%) were EOAD [64].…”

Section: Molecular Markers For Early Alzheimer´s Diseasementioning

confidence: 94%

Genetic, Biochemical and Histopathological Aspects of Familiar Alzheimer's Disease

Ortíz¹,

Pacheco-Moisés²,

Renovato³

et al. 2015

Alzheimer's Disease - Challenges for the Future

Self Cite

View full text Add to dashboard Cite

Novel Point Mutations and A8027G Polymorphism in Mitochondrial-DNA-Encoded Cytochrome c Oxidase II Gene in Mexican Patients with Probable Alzheimer Disease

Cited by 4 publications

References 25 publications

Proteins that mediate protein aggregation and cytotoxicity distinguish Alzheimer's hippocampus from normal controls

Proteins that mediate protein aggregation and cytotoxicity distinguish Alzheimer's hippocampus from normal controls

Alzheimer’s Disease in the Latino Community: Intersection of Genetics and Social Determinants of Health

Genetic, Biochemical and Histopathological Aspects of Familiar Alzheimer's Disease

Contact Info

Product

Resources

About