Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do?

CONCLUSION: If specific functional results are similar to controls, one might inquire about the pathogenicity of the studied variant and more genetic or bioinformatics analyses and family investigations are needed. There are also limitations of NGS in mutation detection that Sanger sequencing can overcome (P1). When performed first, the OXPHOS activity may guide to genetic screening or interpretation, concordant to later assembly results. All cases were solved and data may be crucial for genetic counseling.PMID:38111113 | DOI:10.2174/0118715303273290231211062420

Source: Endocrine, Metabolic and Immune Disorders Drug Targets - December 19, 2023 Category: Drugs & Pharmacology Authors: Marta Sim ões Maria Jo ão Santos Sara Martins Maria do Carmo Mac ário Jo ão Durães Lu ísa Diogo Jo ão Paulo Oliveira Jos é Carlos Ferreira Manuela Grazina Source Type: research